Linked Data
ClinVar Variation Id:
365918
ClinVar RCV Id:
RCV000390096
dbSNP Id:
rs767338891
ExAC:
9:139568293 G / A
gnomAD v2:
9-139568293-G-A
gnomAD v3:
9-136673841-G-A
gnomAD v4:
9-136673841-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673841G>A , CM000671.2:g.136673841G>A | GRCh38 |
| NC_000009.11:g.139568293G>A , CM000671.1:g.139568293G>A | GRCh37 |
| NC_000009.10:g.138688114G>A | NCBI36 |
| NG_008090.1:g.18619C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.748C>T MANE Select | ENSP00000360761.2:p.Arg250Trp | |
| ENST00000371694.7:c.652C>T | ENSP00000360759.3:p.Arg218Trp | |
| ENST00000371696.6:c.748C>T | ENSP00000360761.2:p.Arg250Trp | |
| ENST00000472820.1:n.676C>T | ||
| ENST00000538402.1:c.748C>T | ENSP00000438919.1:p.Arg250Trp | |
| NM_001012727.1:c.652C>T | NP_001012745.1:p.Arg218Trp | |
| NM_006412.3:c.748C>T | NP_006403.2:p.Arg250Trp | |
| NM_006412.4:c.748C>T MANE Select | NP_006403.2:p.Arg250Trp | |
| NM_001012727.2:c.652C>T | NP_001012745.1:p.Arg218Trp |