Linked Data
ClinVar Variation Id:
731456
ClinVar RCV Id:
RCV003768794
dbSNP Id:
rs148132876
gnomAD v2:
12-13764789-G-A
gnomAD v3:
12-13611855-G-A
gnomAD v4:
12-13611855-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13611855G>A , CM000674.2:g.13611855G>A | GRCh38 |
| NC_000012.11:g.13764789G>A , CM000674.1:g.13764789G>A | GRCh37 |
| NC_000012.10:g.13656056G>A | NCBI36 |
| NG_031854.1:g.373234C>T | |
| NG_031854.2:g.375158C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.1655-5C>T MANE Select | ENSP00000477455.1:n.1655-5C>T | |
| ENST00000609686.3:c.1655-5C>T | ENSP00000477455.1:n.1655-5C>T | |
| NM_000834.3:c.1655-5C>T | NP_000825.2:n.1655-5C>T | |
| XM_011520628.1:c.1655-5C>T | XP_011518930.1:n.1655-5C>T | |
| XM_011520629.1:c.1655-5C>T | XP_011518931.1:n.1655-5C>T | |
| XM_011520630.1:c.1655-5C>T | XP_011518932.1:n.1655-5C>T | |
| XR_931372.1:n.179-3243G>A | ||
| XR_931373.1:n.318+3098G>A | ||
| XR_931374.1:n.117+1255G>A | ||
| NM_000834.4:c.1655-5C>T | NP_000825.2:n.1655-5C>T | |
| XM_011520628.2:c.1655-5C>T | XP_011518930.1:n.1655-5C>T | |
| XM_011520629.2:c.1655-5C>T | XP_011518931.1:n.1655-5C>T | |
| XM_017019219.2:c.1655-5C>T | XP_016874708.1:n.1655-5C>T | |
| XR_001749013.1:n.599+1255G>A | ||
| XR_931372.2:n.316-3243G>A | ||
| XR_931373.2:n.457+3098G>A | ||
| NM_000834.5:c.1655-5C>T MANE Select | NP_000825.2:n.1655-5C>T |