Linked Data
ClinVar Variation Id:
1059900
ClinVar RCV Id:
RCV001369261
dbSNP Id:
rs900941461
gnomAD v2:
9-126139299-G-A
gnomAD v3:
9-123377020-G-A
gnomAD v4:
9-123377020-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123377020G>A , CM000671.2:g.123377020G>A | GRCh38 |
| NC_000009.11:g.126139299G>A , CM000671.1:g.126139299G>A | GRCh37 |
| NC_000009.10:g.125179120G>A | NCBI36 |
| NG_051311.1:g.27956G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.3816G>A MANE Select | ENSP00000362734.3:p.Met1272Ile | |
| ENST00000373631.7:c.3816G>A | ENSP00000362734.3:p.Met1272Ile | |
| ENST00000460253.1:c.2820G>A | ENSP00000435279.1:p.Met940Ile | |
| NM_173689.6:c.3816G>A | NP_775960.4:p.Met1272Ile | |
| NR_104603.1:n.2930G>A | ||
| XM_005251934.1:c.2820G>A | XP_005251991.1:p.Met940Ile | |
| XM_011518556.1:c.3789G>A | XP_011516858.1:p.Met1263Ile | |
| XM_011518557.1:c.3621G>A | XP_011516859.1:p.Met1207Ile | |
| XM_011518558.1:c.3621G>A | XP_011516860.1:p.Met1207Ile | |
| XM_005251934.3:c.2820G>A | XP_005251991.1:p.Met940Ile | |
| XM_011518556.3:c.3789G>A | XP_011516858.1:p.Met1263Ile | |
| XM_011518557.3:c.3621G>A | XP_011516859.1:p.Met1207Ile | |
| XM_011518558.3:c.3621G>A | XP_011516860.1:p.Met1207Ile | |
| NM_173689.7:c.3816G>A MANE Select | NP_775960.4:p.Met1272Ile | |
| NR_104603.2:n.2930G>A |