Linked Data
ClinVar Variation Id:
1319067
ClinVar RCV Id:
RCV003238393
dbSNP Id:
rs1198949266
gnomAD v2:
9-127265423-G-A
gnomAD v4:
9-124503144-G-A
COSMIC:
COSM5468279
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124503144G>A , CM000671.2:g.124503144G>A | GRCh38 |
| NC_000009.11:g.127265423G>A , CM000671.1:g.127265423G>A | GRCh37 |
| NC_000009.10:g.126305244G>A | NCBI36 |
| NG_008176.1:g.9277C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.179C>T MANE Select | ENSP00000362690.4:p.Thr60Met | |
| ENST00000373588.8:c.179C>T | ENSP00000362690.4:p.Thr60Met | |
| ENST00000455734.1:c.179C>T | ENSP00000393245.1:p.Thr60Met | |
| ENST00000620110.4:c.179C>T | ENSP00000483309.1:p.Thr60Met | |
| NM_004959.4:c.179C>T | NP_004950.2:p.Thr60Met | |
| XM_005251871.2:c.179C>T | XP_005251928.1:p.Thr60Met | |
| XM_005251872.3:c.-18+150C>T | XP_005251929.1:n.-18+150C>T | |
| XM_011518455.1:c.179C>T | XP_011516757.1:p.Thr60Met | |
| XM_011518456.1:c.179C>T | XP_011516758.1:p.Thr60Met | |
| NM_004959.5:c.179C>T MANE Select | NP_004950.2:p.Thr60Met |