Linked Data
dbSNP Id:
rs1368629912
gnomAD v2:
9-128001042-G-A
gnomAD v3:
9-125238763-G-A
gnomAD v4:
9-125238763-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.125238763G>A , CM000671.2:g.125238763G>A | GRCh38 |
| NC_000009.11:g.128001042G>A , CM000671.1:g.128001042G>A | GRCh37 |
| NC_000009.10:g.127040863G>A | NCBI36 |
| NG_027761.1:g.7625C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324460.7:c.1061C>T MANE Select | ENSP00000324173.6:p.Ser354Phe | |
| ENST00000679355.1:n.1416C>T | ||
| ENST00000679475.1:n.1645C>T | ||
| ENST00000680032.1:c.1061C>T | ENSP00000506285.1:p.Ser354Phe | |
| ENST00000680234.1:n.1317C>T | ||
| ENST00000680257.1:n.1317C>T | ||
| ENST00000680272.1:c.997-50C>T | ENSP00000506097.1:n.997-50C>T | |
| ENST00000680494.1:n.2485C>T | ||
| ENST00000680640.1:n.2012C>T | ||
| ENST00000681045.1:n.1941C>T | ||
| ENST00000681424.1:n.1416C>T | ||
| ENST00000681540.1:n.1317C>T | ||
| ENST00000681544.1:n.1392C>T | ||
| ENST00000681675.1:n.1941C>T | ||
| ENST00000681774.1:n.2283C>T | ||
| ENST00000324460.6:c.1061C>T | ENSP00000324173.6:p.Ser354Phe | |
| NM_005347.4:c.1061C>T | NP_005338.1:p.Ser354Phe | |
| NM_005347.5:c.1061C>T MANE Select | NP_005338.1:p.Ser354Phe |