OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Linked Data
gnomAD v4:
3-70988010-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.70988010T>C , CM000665.2:g.70988010T>C | GRCh38 |
| NC_000003.11:g.71037161T>C , CM000665.1:g.71037161T>C | GRCh37 |
| NC_000003.10:g.71119851T>C | NCBI36 |
| NG_028243.1:g.600980A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318789.11:c.1130A>G | ENSP00000318902.5:p.Lys377Arg | |
| ENST00000475937.6:c.569A>G | ENSP00000419393.2:p.Lys190Arg | |
| ENST00000491238.8:c.827A>G | ENSP00000420736.3:p.Lys276Arg | |
| ENST00000498215.7:c.1130A>G | ENSP00000418102.1:p.Lys377Arg | |
| ENST00000615603.5:n.1561A>G | ||
| ENST00000648710.2:c.1130A>G | ENSP00000497430.2:p.Lys377Arg | |
| ENST00000648748.3:c.830A>G | ENSP00000497077.3:p.Lys277Arg | |
| ENST00000648794.2:c.827A>G | ENSP00000497435.1:p.Lys276Arg | |
| ENST00000649431.2:c.1130A>G | ENSP00000498174.2:p.Lys377Arg | |
| ENST00000649610.2:c.1127A>G | ENSP00000497693.2:p.Lys376Arg | |
| ENST00000649695.3:c.830A>G | ENSP00000496841.3:p.Lys277Arg | |
| ENST00000650068.2:c.1130A>G | ENSP00000497454.2:p.Lys377Arg | |
| ENST00000318789.10:c.1130A>G | ENSP00000318902.5:p.Lys377Arg | |
| ENST00000327590.9:c.1130A>G | ENSP00000333560.4:p.Lys377Arg | |
| ENST00000468577.6:c.1127A>G | ENSP00000418883.2:p.Lys376Arg | |
| ENST00000491238.7:c.827A>G | ENSP00000420736.3:p.Lys276Arg | |
| ENST00000493089.7:c.1130A>G | ENSP00000418524.1:p.Lys377Arg | |
| ENST00000497355.7:c.569A>G | ENSP00000418225.3:p.Lys190Arg | |
| ENST00000498215.6:c.1130A>G | ENSP00000418102.1:p.Lys377Arg | |
| ENST00000614176.5:c.827A>G | ENSP00000482847.2:p.Lys276Arg | |
| ENST00000644199.1:n.452A>G | ||
| ENST00000647725.1:c.1130A>G | ENSP00000497585.1:p.Lys377Arg | |
| ENST00000647741.1:n.2640A>G | ||
| ENST00000648121.1:c.569A>G | ENSP00000497418.1:p.Lys190Arg | |
| ENST00000648321.1:c.*34A>G | ENSP00000498015.1:n.*34A>G | |
| ENST00000648380.1:c.1130A>G | ENSP00000497344.1:p.Lys377Arg | |
| ENST00000648384.1:c.*34A>G | ENSP00000497976.1:n.*34A>G | |
| ENST00000648426.1:c.1130A>G | ENSP00000498110.1:p.Lys377Arg | |
| ENST00000648654.1:c.*249A>G | ENSP00000497181.1:n.*249A>G | |
| ENST00000648710.1:c.1127A>G | ENSP00000497430.1:p.Lys376Arg | |
| ENST00000648718.1:c.1130A>G | ENSP00000496810.1:p.Lys377Arg | |
| ENST00000648748.2:c.830A>G | ENSP00000497077.2:p.Lys277Arg | |
| ENST00000648794.1:c.827A>G | ENSP00000497435.1:p.Lys276Arg | |
| ENST00000649081.1:n.2504A>G | ||
| ENST00000649417.1:n.514A>G | ||
| ENST00000649431.1:c.1118A>G | ENSP00000498174.1:p.Lys373Arg | |
| ENST00000649513.1:c.569A>G | ENSP00000497237.1:p.Lys190Arg | |
| ENST00000649528.3:c.1130A>G MANE Select | ENSP00000497369.1:p.Lys377Arg | |
| ENST00000649592.1:c.830A>G | ENSP00000496968.1:p.Lys277Arg | |
| ENST00000649596.1:c.1127A>G | ENSP00000496932.1:p.Lys376Arg | |
| ENST00000649610.1:c.1127A>G | ENSP00000497693.1:p.Lys376Arg | |
| ENST00000649631.1:c.1130A>G | ENSP00000496990.1:p.Lys377Arg | |
| ENST00000649695.2:c.830A>G | ENSP00000496841.2:p.Lys277Arg | |
| ENST00000650068.1:c.1130A>G | ENSP00000497454.1:p.Lys377Arg | |
| ENST00000650123.1:c.1648A>G | ||
| ENST00000650188.1:c.830A>G | ENSP00000497096.1:p.Lys277Arg | |
| ENST00000650387.1:c.830A>G | ENSP00000497567.1:p.Lys277Arg | |
| ENST00000650402.1:c.830A>G | ENSP00000497563.1:p.Lys277Arg | |
| ENST00000650580.1:n.953A>G | ||
| ENST00000674446.1:c.1136A>G | ENSP00000501439.1:p.Lys379Arg | |
| ENST00000318789.8:c.1130A>G | ENSP00000318902.4:p.Lys377Arg | |
| ENST00000327590.8:c.1130A>G | ENSP00000333560.4:p.Lys377Arg | |
| ENST00000468577.5:c.1130A>G | ENSP00000418883.1:p.Lys377Arg | |
| ENST00000475937.5:c.1130A>G | ENSP00000419393.1:p.Lys377Arg | |
| ENST00000484350.5:c.902A>G | ENSP00000417857.1:p.Lys301Arg | |
| ENST00000491238.5:c.1136A>G | ENSP00000420736.1:p.Lys379Arg | |
| ENST00000493089.5:c.1130A>G | ENSP00000418524.1:p.Lys377Arg | |
| ENST00000497355.5:c.818A>G | ENSP00000418225.1:p.Lys273Arg | |
| ENST00000498215.5:c.1130A>G | ENSP00000418102.1:p.Lys377Arg | |
| ENST00000614176.4:c.830A>G | ENSP00000482847.1:p.Lys277Arg | |
| ENST00000615603.4:c.1130A>G | ENSP00000484803.1:p.Lys377Arg | |
| NM_001244808.1:c.1130A>G | NP_001231737.1:p.Lys377Arg | |
| NM_001244810.1:c.1130A>G | NP_001231739.1:p.Lys377Arg | |
| NM_001244812.1:c.902A>G | NP_001231741.1:p.Lys301Arg | |
| NM_001244813.1:c.830A>G | NP_001231742.1:p.Lys277Arg | |
| NM_001244814.1:c.1130A>G | NP_001231743.1:p.Lys377Arg | |
| NM_001244815.1:c.1136A>G | NP_001231744.1:p.Lys379Arg | |
| NM_001244816.1:c.1130A>G | NP_001231745.1:p.Lys377Arg | |
| NM_032682.5:c.1130A>G | NP_116071.2:p.Lys377Arg | |
| XM_005264735.2:c.1133A>G | XP_005264792.1:p.Lys378Arg | |
| XM_005264736.2:c.1136A>G | XP_005264793.1:p.Lys379Arg | |
| XM_005264737.3:c.1127A>G | XP_005264794.1:p.Lys376Arg | |
| XM_005264742.2:c.827A>G | XP_005264799.1:p.Lys276Arg | |
| XM_006713102.1:c.1130A>G | XP_006713165.1:p.Lys377Arg | |
| XM_006713103.1:c.1130A>G | XP_006713166.1:p.Lys377Arg | |
| XM_006713104.1:c.1130A>G | XP_006713167.1:p.Lys377Arg | |
| XM_011533584.1:c.1130A>G | XP_011531886.1:p.Lys377Arg | |
| XM_011533585.1:c.1130A>G | XP_011531887.1:p.Lys377Arg | |
| XM_011533586.1:c.1130A>G | XP_011531888.1:p.Lys377Arg | |
| XM_011533587.1:c.1130A>G | XP_011531889.1:p.Lys377Arg | |
| XM_011533588.1:c.830A>G | XP_011531890.1:p.Lys277Arg | |
| XR_427266.2:n.4792A>G | ||
| XR_940413.1:n.1394A>G | ||
| XR_940414.1:n.4942A>G | ||
| NM_001349337.1:c.1133A>G | NP_001336266.1:p.Lys378Arg | |
| NM_001349338.1:c.1130A>G | NP_001336267.1:p.Lys377Arg | |
| NM_001349340.1:c.1130A>G | NP_001336269.1:p.Lys377Arg | |
| NM_001349341.1:c.1127A>G | NP_001336270.1:p.Lys376Arg | |
| NM_001349342.1:c.830A>G | NP_001336271.1:p.Lys277Arg | |
| NM_001349343.1:c.827A>G | NP_001336272.1:p.Lys276Arg | |
| NM_001349344.1:c.827A>G | NP_001336273.1:p.Lys276Arg | |
| NR_146142.1:n.1671A>G | ||
| NR_146143.1:n.1668A>G | ||
| XM_005264736.3:c.1136A>G | XP_005264793.1:p.Lys379Arg | |
| XM_006713102.2:c.1130A>G | XP_006713165.1:p.Lys377Arg | |
| XM_006713103.2:c.1130A>G | XP_006713166.1:p.Lys377Arg | |
| XM_006713104.2:c.1130A>G | XP_006713167.1:p.Lys377Arg | |
| XM_011533585.3:c.1130A>G | XP_011531887.1:p.Lys377Arg | |
| XM_017006165.1:c.1130A>G | XP_016861654.1:p.Lys377Arg | |
| XM_017006167.1:c.1133A>G | XP_016861656.1:p.Lys378Arg | |
| XR_001740102.1:n.947A>G | ||
| NM_001244808.2:c.1130A>G | NP_001231737.1:p.Lys377Arg | |
| NM_001244812.2:c.902A>G | NP_001231741.1:p.Lys301Arg | |
| NM_001244813.2:c.830A>G | NP_001231742.1:p.Lys277Arg | |
| NM_001244814.2:c.1130A>G | NP_001231743.1:p.Lys377Arg | |
| NM_001244815.2:c.830A>G | NP_001231744.2:p.Lys277Arg | |
| NM_001349337.2:c.827A>G | NP_001336266.2:p.Lys276Arg | |
| NM_001349338.2:c.1130A>G | NP_001336267.1:p.Lys377Arg | |
| NM_001349340.2:c.1130A>G | NP_001336269.1:p.Lys377Arg | |
| NM_001349341.2:c.1127A>G | NP_001336270.1:p.Lys376Arg | |
| NM_001349342.2:c.830A>G | NP_001336271.1:p.Lys277Arg | |
| NM_001349343.2:c.827A>G | NP_001336272.1:p.Lys276Arg | |
| NM_001349344.2:c.827A>G | NP_001336273.1:p.Lys276Arg | |
| NM_001370548.1:c.830A>G | NP_001357477.1:p.Lys277Arg | |
| NM_032682.6:c.1130A>G | NP_116071.2:p.Lys377Arg | |
| NR_146142.2:n.1646A>G | ||
| NR_146143.2:n.1643A>G | ||
| NM_001244808.3:c.1130A>G | NP_001231737.1:p.Lys377Arg | |
| NM_001244810.2:c.1130A>G | NP_001231739.1:p.Lys377Arg | |
| NM_001244812.3:c.902A>G | NP_001231741.1:p.Lys301Arg | |
| NM_001244813.3:c.830A>G | NP_001231742.1:p.Lys277Arg | |
| NM_001244814.3:c.1130A>G | NP_001231743.1:p.Lys377Arg | |
| NM_001244816.2:c.1130A>G | NP_001231745.1:p.Lys377Arg | |
| NM_001349338.3:c.1130A>G MANE Select | NP_001336267.1:p.Lys377Arg | |
| NM_001349340.3:c.1130A>G | NP_001336269.1:p.Lys377Arg | |
| NM_001349341.3:c.1127A>G | NP_001336270.1:p.Lys376Arg | |
| NM_001349342.3:c.830A>G | NP_001336271.1:p.Lys277Arg | |
| NM_001349343.3:c.827A>G | NP_001336272.1:p.Lys276Arg | |
| NM_001349344.3:c.827A>G | NP_001336273.1:p.Lys276Arg | |
| NR_146142.3:n.1646A>G | ||
| NR_146143.3:n.1643A>G |