Linked Data
ClinVar Variation Id:
256326
dbSNP Id:
rs1769257
ExAC:
9:97365720 T / C
gnomAD v2:
9-97365720-T-C
gnomAD v3:
9-94603438-T-C
gnomAD v4:
9-94603438-T-C
COSMIC:
COSM3774392
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94603438T>C , CM000671.2:g.94603438T>C | GRCh38 |
| NC_000009.11:g.97365720T>C , CM000671.1:g.97365720T>C | GRCh37 |
| NC_000009.10:g.96405541T>C | NCBI36 |
| NG_008174.1:g.41812A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.1120A>G | ENSP00000507547.1:n.1120A>G | |
| ENST00000375326.9:c.960A>G MANE Select | ENSP00000364475.5:p.Gly320= | |
| ENST00000648117.1:c.765A>G | ENSP00000498145.1:p.Gly255= | |
| ENST00000375326.8:c.960A>G | ENSP00000364475.4:p.Gly320= | |
| ENST00000415431.5:c.960A>G | ENSP00000408025.1:p.Gly320= | |
| NM_000507.3:c.960A>G | NP_000498.2:p.Gly320= | |
| NM_001127628.1:c.960A>G | NP_001121100.1:p.Gly320= | |
| XM_006717005.2:c.714A>G | XP_006717068.1:p.Gly238= | |
| XM_006717005.4:c.714A>G | XP_006717068.1:p.Gly238= | |
| NM_000507.4:c.960A>G MANE Select | NP_000498.2:p.Gly320= | |
| NM_001127628.2:c.960A>G | NP_001121100.1:p.Gly320= |