Linked Data
ClinVar Variation Id:
2188649
ClinVar RCV Id:
RCV002620388
dbSNP Id:
rs1863531697
gnomAD v3:
12-13753790-G-A
gnomAD v4:
12-13753790-G-A
MyVariant Identifiers:
chr12:g.13906724G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13753790G>A , CM000674.2:g.13753790G>A | GRCh38 |
| NC_000012.11:g.13906724G>A , CM000674.1:g.13906724G>A | GRCh37 |
| NC_000012.10:g.13797991G>A | NCBI36 |
| NG_031854.1:g.231299C>T | |
| NG_031854.2:g.233223C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.537C>T MANE Select | ENSP00000477455.1:p.Tyr179= | |
| ENST00000630791.2:c.537C>T | ENSP00000486677.2:p.Tyr179= | |
| ENST00000609686.3:c.537C>T | ENSP00000477455.1:p.Tyr179= | |
| NM_000834.3:c.537C>T | NP_000825.2:p.Tyr179= | |
| XM_011520628.1:c.537C>T | XP_011518930.1:p.Tyr179= | |
| XM_011520629.1:c.537C>T | XP_011518931.1:p.Tyr179= | |
| XM_011520630.1:c.537C>T | XP_011518932.1:p.Tyr179= | |
| NM_000834.4:c.537C>T | NP_000825.2:p.Tyr179= | |
| XM_011520628.2:c.537C>T | XP_011518930.1:p.Tyr179= | |
| XM_011520629.2:c.537C>T | XP_011518931.1:p.Tyr179= | |
| XM_017019219.2:c.537C>T | XP_016874708.1:p.Tyr179= | |
| NM_000834.5:c.537C>T MANE Select | NP_000825.2:p.Tyr179= |