Linked Data
dbSNP Id:
rs13072512
gnomAD v2:
3-71414045-A-G
gnomAD v3:
3-71364894-A-G
gnomAD v4:
3-71364894-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.71364894A>G , CM000665.2:g.71364894A>G | GRCh38 |
| NC_000003.11:g.71414045A>G , CM000665.1:g.71414045A>G | GRCh37 |
| NC_000003.10:g.71496735A>G | NCBI36 |
| NG_028243.1:g.224096T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318789.11:c.-167-5650T>C | ENSP00000318902.5:n.-167-5650T>C | |
| ENST00000615603.5:n.265-5650T>C | ||
| ENST00000648710.2:c.-289-5650T>C | ENSP00000497430.2:n.-289-5650T>C | |
| ENST00000649610.2:c.-167-5650T>C | ENSP00000497693.2:n.-167-5650T>C | |
| ENST00000650068.2:c.-167-5650T>C | ENSP00000497454.2:n.-167-5650T>C | |
| ENST00000318789.10:c.-167-5650T>C | ENSP00000318902.5:n.-167-5650T>C | |
| ENST00000327590.9:c.-3295-5650T>C | ENSP00000333560.4:n.-3295-5650T>C | |
| ENST00000471386.3:c.-167-5650T>C | ENSP00000497992.1:n.-167-5650T>C | |
| ENST00000493089.7:c.-167-5650T>C | ENSP00000418524.1:n.-167-5650T>C | |
| ENST00000498154.6:n.309-5650T>C | ||
| ENST00000647725.1:c.-289-5650T>C | ENSP00000497585.1:n.-289-5650T>C | |
| ENST00000648192.1:n.318-5650T>C | ||
| ENST00000648321.1:c.-167-5650T>C | ENSP00000498015.1:n.-167-5650T>C | |
| ENST00000648380.1:c.-289-5650T>C | ENSP00000497344.1:n.-289-5650T>C | |
| ENST00000648384.1:c.-167-5650T>C | ENSP00000497976.1:n.-167-5650T>C | |
| ENST00000648718.1:c.-285-5650T>C | ENSP00000496810.1:n.-285-5650T>C | |
| ENST00000648895.1:c.-167-5650T>C | ENSP00000497417.1:n.-167-5650T>C | |
| ENST00000648944.1:c.-180-5650T>C | ENSP00000497405.1:n.-180-5650T>C | |
| ENST00000649133.1:n.166-5650T>C | ||
| ENST00000649145.1:n.123-5650T>C | ||
| ENST00000649175.1:n.293-5650T>C | ||
| ENST00000649328.1:n.249-5650T>C | ||
| ENST00000649528.3:c.-167-5650T>C MANE Select | ENSP00000497369.1:n.-167-5650T>C | |
| ENST00000649596.1:c.-167-5650T>C | ENSP00000496932.1:n.-167-5650T>C | |
| ENST00000649610.1:c.-180-5650T>C | ENSP00000497693.1:n.-180-5650T>C | |
| ENST00000649631.1:c.-72-65014T>C | ENSP00000496990.1:n.-72-65014T>C | |
| ENST00000650068.1:c.-167-5650T>C | ENSP00000497454.1:n.-167-5650T>C | |
| ENST00000650123.1:c.352-5650T>C | ||
| ENST00000650156.1:c.-167-5650T>C | ENSP00000496852.1:n.-167-5650T>C | |
| ENST00000650295.1:c.-167-5650T>C | ENSP00000497138.1:n.-167-5650T>C | |
| ENST00000650530.1:c.*275-5650T>C | ENSP00000497842.1:n.*275-5650T>C | |
| ENST00000318779.7:c.-167-5650T>C | ENSP00000318721.3:n.-167-5650T>C | |
| ENST00000318789.8:c.-167-5650T>C | ENSP00000318902.4:n.-167-5650T>C | |
| ENST00000327590.8:c.-3295-5650T>C | ENSP00000333560.4:n.-3295-5650T>C | |
| ENST00000475937.5:c.-167-5650T>C | ENSP00000419393.1:n.-167-5650T>C | |
| ENST00000493089.5:c.-167-5650T>C | ENSP00000418524.1:n.-167-5650T>C | |
| ENST00000615603.4:c.-167-5650T>C | ENSP00000484803.1:n.-167-5650T>C | |
| NM_001012505.1:c.-167-5650T>C | NP_001012523.1:n.-167-5650T>C | |
| NM_001244808.1:c.-167-5650T>C | NP_001231737.1:n.-167-5650T>C | |
| NM_001244810.1:c.-167-5650T>C | NP_001231739.1:n.-167-5650T>C | |
| NM_001244816.1:c.-167-5650T>C | NP_001231745.1:n.-167-5650T>C | |
| NM_032682.5:c.-167-5650T>C | NP_116071.2:n.-167-5650T>C | |
| XM_005264737.3:c.-167-5650T>C | XP_005264794.1:n.-167-5650T>C | |
| XM_006713102.1:c.-167-5650T>C | XP_006713165.1:n.-167-5650T>C | |
| XM_011533584.1:c.-167-5650T>C | XP_011531886.1:n.-167-5650T>C | |
| XM_011533585.1:c.-167-5650T>C | XP_011531887.1:n.-167-5650T>C | |
| XM_011533586.1:c.-167-5650T>C | XP_011531888.1:n.-167-5650T>C | |
| XR_427266.2:n.368-5650T>C | ||
| XR_940414.1:n.518-5650T>C | ||
| NM_001349338.1:c.-167-5650T>C | NP_001336267.1:n.-167-5650T>C | |
| NM_001349340.1:c.-72-65014T>C | NP_001336269.1:n.-72-65014T>C | |
| NM_001349341.1:c.-167-5650T>C | NP_001336270.1:n.-167-5650T>C | |
| NR_146142.1:n.463-5650T>C | ||
| NR_146143.1:n.463-5650T>C | ||
| XM_006713102.2:c.-167-5650T>C | XP_006713165.1:n.-167-5650T>C | |
| XM_011533585.3:c.-167-5650T>C | XP_011531887.1:n.-167-5650T>C | |
| XM_017006165.1:c.-167-5650T>C | XP_016861654.1:n.-167-5650T>C | |
| XM_017006168.2:c.-167-5650T>C | XP_016861657.1:n.-167-5650T>C | |
| NM_001244808.2:c.-167-5650T>C | NP_001231737.1:n.-167-5650T>C | |
| NM_001349338.2:c.-167-5650T>C | NP_001336267.1:n.-167-5650T>C | |
| NM_001349340.2:c.-72-65014T>C | NP_001336269.1:n.-72-65014T>C | |
| NM_001349341.2:c.-167-5650T>C | NP_001336270.1:n.-167-5650T>C | |
| NM_032682.6:c.-167-5650T>C | NP_116071.2:n.-167-5650T>C | |
| NR_146142.2:n.438-5650T>C | ||
| NR_146143.2:n.438-5650T>C | ||
| NM_001012505.2:c.-167-5650T>C | NP_001012523.1:n.-167-5650T>C | |
| NM_001244808.3:c.-167-5650T>C | NP_001231737.1:n.-167-5650T>C | |
| NM_001244810.2:c.-167-5650T>C | NP_001231739.1:n.-167-5650T>C | |
| NM_001244816.2:c.-167-5650T>C | NP_001231745.1:n.-167-5650T>C | |
| NM_001349338.3:c.-167-5650T>C MANE Select | NP_001336267.1:n.-167-5650T>C | |
| NM_001349340.3:c.-72-65014T>C | NP_001336269.1:n.-72-65014T>C | |
| NM_001349341.3:c.-167-5650T>C | NP_001336270.1:n.-167-5650T>C | |
| NR_146142.3:n.438-5650T>C | ||
| NR_146143.3:n.438-5650T>C |