Linked Data
ClinVar Variation Id:
2210538
ClinVar RCV Id:
RCV004077105
dbSNP Id:
rs372316877
ExAC:
6:117116961 C / T
gnomAD v2:
6-117116961-C-T
gnomAD v3:
6-116795798-C-T
gnomAD v4:
6-116795798-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116795798C>T , CM000668.2:g.116795798C>T | GRCh38 |
| NC_000006.11:g.117116961C>T , CM000668.1:g.117116961C>T | GRCh37 |
| NC_000006.10:g.117223654C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310357.8:c.1586G>A MANE Select | ENSP00000309493.4:p.Gly529Glu | |
| ENST00000310357.7:c.1586G>A | ENSP00000309493.3:p.Gly529Glu | |
| ENST00000368549.7:c.1373G>A | ENSP00000357537.3:p.Gly458Glu | |
| ENST00000530250.1:c.1061G>A | ENSP00000433465.1:p.Gly354Glu | |
| NM_001286354.1:c.1061G>A | NP_001273283.1:p.Gly354Glu | |
| NM_001286355.1:c.1373G>A | NP_001273284.1:p.Gly458Glu | |
| NM_148963.3:c.1586G>A | NP_683766.2:p.Gly529Glu | |
| XM_017010475.1:c.1445G>A | XP_016865964.1:p.Gly482Glu | |
| XM_017010476.1:c.1586G>A | XP_016865965.1:p.Gly529Glu | |
| NM_148963.4:c.1586G>A MANE Select | NP_683766.2:p.Gly529Glu |