Linked Data
ClinVar Variation Id:
134011
ClinVar RCV Id:
RCV000120680
dbSNP Id:
rs75478555
ExAC:
6:139165602 G / A
gnomAD v2:
6-139165602-G-A
gnomAD v3:
6-138844465-G-A
gnomAD v4:
6-138844465-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.138844465G>A , CM000668.2:g.138844465G>A | GRCh38 |
| NC_000006.11:g.139165602G>A , CM000668.1:g.139165602G>A | GRCh37 |
| NC_000006.10:g.139207295G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541398.7:c.649G>A MANE Select | ENSP00000442307.2:p.Val217Met | |
| ENST00000367682.6:c.649G>A | ENSP00000356655.2:p.Val217Met | |
| ENST00000423192.5:c.649G>A | ENSP00000387388.1:p.Val217Met | |
| ENST00000541398.5:c.649G>A | ENSP00000442307.2:p.Val217Met | |
| NM_001077706.2:c.649G>A | NP_001071174.1:p.Val217Met | |
| NM_001195037.2:c.649G>A | NP_001181966.1:p.Val217Met | |
| XM_006715472.2:c.649G>A | XP_006715535.1:p.Val217Met | |
| XM_011535795.1:c.649G>A | XP_011534097.1:p.Val217Met | |
| XM_011535796.1:c.700G>A | XP_011534098.1:p.Val234Met | |
| XM_011535797.1:c.442G>A | XP_011534099.1:p.Val148Met | |
| XM_006715472.3:c.649G>A | XP_006715535.1:p.Val217Met | |
| XM_011535795.2:c.649G>A | XP_011534097.1:p.Val217Met | |
| XM_011535797.2:c.442G>A | XP_011534099.1:p.Val148Met | |
| XM_017010828.1:c.649G>A | XP_016866317.1:p.Val217Met | |
| XM_017010829.1:c.649G>A | XP_016866318.1:p.Val217Met | |
| XM_017010830.1:c.649G>A | XP_016866319.1:p.Val217Met | |
| NM_001077706.3:c.649G>A MANE Select | NP_001071174.1:p.Val217Met |