Linked Data
ClinVar Variation Id:
740097
ClinVar RCV Id:
RCV001467146
dbSNP Id:
rs780770792
ExAC:
7:151265793 A / G
gnomAD v2:
7-151265793-A-G
gnomAD v3:
7-151568707-A-G
gnomAD v4:
7-151568707-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151568707A>G , CM000669.2:g.151568707A>G | GRCh38 |
| NC_000007.13:g.151265793A>G , CM000669.1:g.151265793A>G | GRCh37 |
| NC_000007.12:g.150896726A>G | NCBI36 |
| NG_007486.1:g.313524T>C | |
| NG_007486.2:g.313525T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478989.7:c.507+9T>C | ENSP00000420645.3:n.507+9T>C | |
| ENST00000652321.2:c.1230+9T>C | ENSP00000498886.2:n.1230+9T>C | |
| ENST00000287878.9:c.1233+9T>C MANE Select | ENSP00000287878.3:n.1233+9T>C | |
| ENST00000476632.2:c.510+9T>C | ENSP00000419493.2:n.510+9T>C | |
| ENST00000478989.6:c.293+9T>C | ||
| ENST00000492843.6:c.858+9T>C | ENSP00000419577.2:n.858+9T>C | |
| ENST00000650851.1:n.727+9T>C | ||
| ENST00000650858.1:c.450+9T>C | ENSP00000498384.1:n.450+9T>C | |
| ENST00000650948.1:n.1348+9T>C | ||
| ENST00000651188.1:c.*346+1464T>C | ENSP00000498557.1:n.*346+1464T>C | |
| ENST00000651303.1:c.*552+9T>C | ENSP00000498428.1:n.*552+9T>C | |
| ENST00000651378.1:c.510+9T>C | ENSP00000499103.1:n.510+9T>C | |
| ENST00000651764.1:c.1101+9T>C | ENSP00000498796.1:n.1101+9T>C | |
| ENST00000651836.1:c.1001+9T>C | ENSP00000499156.1:n.1001+9T>C | |
| ENST00000652047.1:c.1098+9T>C | ENSP00000499111.1:n.1098+9T>C | |
| ENST00000652136.1:n.966+9T>C | ||
| ENST00000652159.1:c.1101+9T>C | ENSP00000499025.1:n.1101+9T>C | |
| ENST00000652397.1:c.510+9T>C | ENSP00000498351.1:n.510+9T>C | |
| ENST00000287878.8:c.1233+9T>C | ENSP00000287878.3:n.1233+9T>C | |
| ENST00000392801.6:c.1101+9T>C | ENSP00000376549.2:n.1101+9T>C | |
| ENST00000418337.6:c.510+9T>C | ENSP00000387386.2:n.510+9T>C | |
| ENST00000478989.5:c.285+9T>C | ENSP00000420645.1:n.285+9T>C | |
| ENST00000488258.5:c.*482T>C | ENSP00000420783.1:n.*482T>C | |
| ENST00000492843.5:c.861+9T>C | ENSP00000419577.1:n.861+9T>C | |
| NM_001040633.1:c.1101+9T>C | NP_001035723.1:n.1101+9T>C | |
| NM_001304527.1:c.858+9T>C | NP_001291456.1:n.858+9T>C | |
| NM_001304531.1:c.510+9T>C | NP_001291460.1:n.510+9T>C | |
| NM_016203.3:c.1233+9T>C | NP_057287.2:n.1233+9T>C | |
| NM_024429.1:c.510+9T>C | NP_077747.1:n.510+9T>C | |
| XM_005250002.2:c.1233+9T>C | XP_005250059.1:n.1233+9T>C | |
| XM_005250004.2:c.1101+9T>C | XP_005250061.1:n.1101+9T>C | |
| XM_005250006.3:c.861+9T>C | XP_005250063.1:n.861+9T>C | |
| XM_006716021.2:c.1221+9T>C | XP_006716084.1:n.1221+9T>C | |
| XM_011516282.1:c.1218+9T>C | XP_011514584.1:n.1218+9T>C | |
| XM_011516283.1:c.1221+9T>C | XP_011514585.1:n.1221+9T>C | |
| XM_011516284.1:c.1218+9T>C | XP_011514586.1:n.1218+9T>C | |
| XM_011516285.1:c.510+9T>C | XP_011514587.1:n.510+9T>C | |
| XM_011516286.1:c.486+9T>C | XP_011514588.1:n.486+9T>C | |
| XM_011516287.1:c.450+9T>C | XP_011514589.1:n.450+9T>C | |
| NM_001363698.1:c.861+9T>C | NP_001350627.1:n.861+9T>C | |
| XM_005250002.4:c.1233+9T>C | XP_005250059.1:n.1233+9T>C | |
| XM_005250004.4:c.1101+9T>C | XP_005250061.1:n.1101+9T>C | |
| XM_005250006.5:c.861+9T>C | XP_005250063.1:n.861+9T>C | |
| XM_011516285.2:c.510+9T>C | XP_011514587.1:n.510+9T>C | |
| XM_011516286.2:c.486+9T>C | XP_011514588.1:n.486+9T>C | |
| XM_017012268.2:c.1098+9T>C | XP_016867757.1:n.1098+9T>C | |
| XM_017012269.1:c.1230+9T>C | XP_016867758.1:n.1230+9T>C | |
| XM_017012270.1:c.1101+9T>C | XP_016867759.1:n.1101+9T>C | |
| XM_017012271.2:c.1098+9T>C | XP_016867760.1:n.1098+9T>C | |
| XM_017012272.1:c.1098+9T>C | XP_016867761.1:n.1098+9T>C | |
| XM_017012274.2:c.507+9T>C | XP_016867763.1:n.507+9T>C | |
| XM_017012275.2:c.450+9T>C | XP_016867764.1:n.450+9T>C | |
| XM_017012276.2:c.507+9T>C | XP_016867765.1:n.507+9T>C | |
| XM_017012277.2:c.486+9T>C | XP_016867766.1:n.486+9T>C | |
| XM_017012278.1:c.450+9T>C | XP_016867767.1:n.450+9T>C | |
| XM_017012279.2:c.450+9T>C | XP_016867768.1:n.450+9T>C | |
| XM_017012280.2:c.450+9T>C | XP_016867769.1:n.450+9T>C | |
| XM_017012281.2:c.450+9T>C | XP_016867770.1:n.450+9T>C | |
| XM_024446786.1:c.1101+9T>C | XP_024302554.1:n.1101+9T>C | |
| XM_024446787.1:c.510+9T>C | XP_024302555.1:n.510+9T>C | |
| XM_024446788.1:c.507+9T>C | XP_024302556.1:n.507+9T>C | |
| XM_024446789.1:c.510+9T>C | XP_024302557.1:n.510+9T>C | |
| NM_016203.4:c.1233+9T>C MANE Select | NP_057287.2:n.1233+9T>C | |
| NM_001040633.2:c.1101+9T>C | NP_001035723.1:n.1101+9T>C | |
| NM_001304527.2:c.858+9T>C | NP_001291456.1:n.858+9T>C | |
| NM_001304531.2:c.510+9T>C | NP_001291460.1:n.510+9T>C | |
| NM_001363698.2:c.861+9T>C | NP_001350627.1:n.861+9T>C | |
| NM_024429.2:c.510+9T>C | NP_077747.1:n.510+9T>C |