Linked Data
ClinVar Variation Id:
1755288
ClinVar RCV Id:
RCV002377974
dbSNP Id:
rs79327004
ExAC:
6:116938461 G / A
gnomAD v2:
6-116938461-G-A
gnomAD v3:
6-116617298-G-A
gnomAD v4:
6-116617298-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116617298G>A , CM000668.2:g.116617298G>A | GRCh38 |
| NC_000006.11:g.116938461G>A , CM000668.1:g.116938461G>A | GRCh37 |
| NC_000006.10:g.117045154G>A | NCBI36 |
| NG_012934.1:g.5820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229554.10:c.675G>A MANE Select | ENSP00000229554.5:p.Ser225= | |
| ENST00000229554.9:c.675G>A | ENSP00000229554.5:p.Ser225= | |
| ENST00000368580.4:c.675G>A | ENSP00000357569.4:p.Ser225= | |
| ENST00000368581.8:c.675G>A | ENSP00000357570.4:p.Ser225= | |
| NM_001010892.2:c.675G>A | NP_001010892.1:p.Ser225= | |
| NM_001161664.1:c.675G>A | NP_001155136.1:p.Ser225= | |
| XM_006715469.2:c.675G>A | XP_006715532.1:p.Ser225= | |
| XM_011535791.1:c.675G>A | XP_011534093.1:p.Ser225= | |
| XM_011535792.1:c.675G>A | XP_011534094.1:p.Ser225= | |
| XR_942416.1:n.3326G>A | ||
| XM_017010826.1:c.675G>A | XP_016866315.1:p.Ser225= | |
| NM_001010892.3:c.675G>A MANE Select | NP_001010892.1:p.Ser225= | |
| NM_001161664.2:c.675G>A | NP_001155136.1:p.Ser225= |