Linked Data
ClinVar Variation Id:
2372317
ClinVar RCV Id:
RCV003001546
dbSNP Id:
rs560682486
gnomAD v2:
5-11385169-G-T
gnomAD v3:
5-11385057-G-T
gnomAD v4:
5-11385057-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.11385057G>T , CM000667.2:g.11385057G>T | GRCh38 |
| NC_000005.9:g.11385169G>T , CM000667.1:g.11385169G>T | GRCh37 |
| NC_000005.8:g.11438169G>T | NCBI36 |
| NG_023544.1:g.523942C>A | |
| NG_023544.2:g.523942C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706271.1:c.167-20167C>A | ENSP00000516315.1:n.167-20167C>A | |
| ENST00000304623.13:c.785C>A MANE Select | ENSP00000307134.8:p.Pro262Gln | |
| ENST00000304623.12:c.785C>A | ENSP00000307134.8:p.Pro262Gln | |
| ENST00000502551.5:c.398-20167C>A | ENSP00000422389.1:n.398-20167C>A | |
| ENST00000503622.5:c.167-20167C>A | ENSP00000426887.1:n.167-20167C>A | |
| ENST00000504354.5:n.217-20167C>A | ||
| ENST00000504499.5:c.612+11974C>A | ENSP00000421000.1:n.612+11974C>A | |
| ENST00000511278.5:n.542-20167C>A | ||
| ENST00000511377.5:c.512C>A | ENSP00000426510.1:p.Pro171Gln | |
| ENST00000513588.5:c.440-20167C>A | ENSP00000421093.1:n.440-20167C>A | |
| ENST00000513598.5:c.512C>A | ENSP00000426625.1:p.Pro171Gln | |
| ENST00000514132.1:n.434C>A | ||
| NM_001288715.1:c.512C>A | NP_001275644.1:p.Pro171Gln | |
| NM_001288716.1:c.167-20167C>A | NP_001275645.1:n.167-20167C>A | |
| NM_001288717.1:c.-123+11974C>A | NP_001275646.1:n.-123+11974C>A | |
| NM_001332.3:c.785C>A | NP_001323.1:p.Pro262Gln | |
| NR_109988.1:n.630-20167C>A | ||
| XM_005248251.2:c.785C>A | XP_005248308.1:p.Pro262Gln | |
| XM_005248252.1:c.743C>A | XP_005248309.1:p.Pro248Gln | |
| XM_005248253.1:c.512C>A | XP_005248310.1:p.Pro171Gln | |
| XM_011513967.1:c.512C>A | XP_011512269.1:p.Pro171Gln | |
| NM_001364128.1:c.167-20167C>A | NP_001351057.1:n.167-20167C>A | |
| XM_005248251.3:c.785C>A | XP_005248308.1:p.Pro262Gln | |
| XM_005248252.2:c.743C>A | XP_005248309.1:p.Pro248Gln | |
| XM_011513967.2:c.512C>A | XP_011512269.1:p.Pro171Gln | |
| XM_017009072.1:c.440-20167C>A | XP_016864561.1:n.440-20167C>A | |
| XM_017009073.1:c.398-20167C>A | XP_016864562.1:n.398-20167C>A | |
| XM_017009074.1:c.440-20167C>A | XP_016864563.1:n.440-20167C>A | |
| XM_017009075.2:c.167-20167C>A | XP_016864564.1:n.167-20167C>A | |
| NM_001332.4:c.785C>A MANE Select | NP_001323.1:p.Pro262Gln | |
| NM_001288717.2:c.-123+11974C>A | NP_001275646.1:n.-123+11974C>A | |
| NR_109988.2:n.1033-20167C>A | ||
| NM_001364128.2:c.167-20167C>A | NP_001351057.1:n.167-20167C>A |