Linked Data
ClinVar Variation Id:
676571
ClinVar RCV Id:
RCV000836011
dbSNP Id:
rs182836140
ExAC:
12:13768380 G / A
gnomAD v2:
12-13768380-G-A
gnomAD v3:
12-13615446-G-A
gnomAD v4:
12-13615446-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13615446G>A , CM000674.2:g.13615446G>A | GRCh38 |
| NC_000012.11:g.13768380G>A , CM000674.1:g.13768380G>A | GRCh37 |
| NC_000012.10:g.13659647G>A | NCBI36 |
| NG_031854.1:g.369643C>T | |
| NG_031854.2:g.371567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1500+47C>T MANE Select | ENSP00000477455.1:n.1500+47C>T | |
| ENST00000609686.3:c.1500+47C>T | ENSP00000477455.1:n.1500+47C>T | |
| NM_000834.3:c.1500+47C>T | NP_000825.2:n.1500+47C>T | |
| XM_011520628.1:c.1500+47C>T | XP_011518930.1:n.1500+47C>T | |
| XM_011520629.1:c.1500+47C>T | XP_011518931.1:n.1500+47C>T | |
| XM_011520630.1:c.1500+47C>T | XP_011518932.1:n.1500+47C>T | |
| XR_931372.1:n.307+220G>A | ||
| XR_931373.1:n.447+220G>A | ||
| XR_931374.1:n.246+220G>A | ||
| NM_000834.4:c.1500+47C>T | NP_000825.2:n.1500+47C>T | |
| XM_011520628.2:c.1500+47C>T | XP_011518930.1:n.1500+47C>T | |
| XM_011520629.2:c.1500+47C>T | XP_011518931.1:n.1500+47C>T | |
| XM_017019219.2:c.1500+47C>T | XP_016874708.1:n.1500+47C>T | |
| XR_001749013.1:n.728+220G>A | ||
| XR_931372.2:n.444+220G>A | ||
| XR_931373.2:n.586+220G>A | ||
| NM_000834.5:c.1500+47C>T MANE Select | NP_000825.2:n.1500+47C>T |