Linked Data
ClinVar Variation Id:
372111
ClinVar RCV Id:
RCV000412578
dbSNP Id:
rs1057517655
gnomAD v4:
9-136673913-G-A
PubMed:
PMID:20301391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673913G>A , CM000671.2:g.136673913G>A | GRCh38 |
| NC_000009.11:g.139568365G>A , CM000671.1:g.139568365G>A | GRCh37 |
| NC_000009.10:g.138688186G>A | NCBI36 |
| NG_008090.1:g.18547C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371696.7:c.676C>T MANE Select | ENSP00000360761.2:p.Gln226Ter | |
| ENST00000371694.7:c.580C>T | ENSP00000360759.3:p.Gln194Ter | |
| ENST00000371696.6:c.676C>T | ENSP00000360761.2:p.Gln226Ter | |
| ENST00000472820.1:n.604C>T | ||
| ENST00000538402.1:c.676C>T | ENSP00000438919.1:p.Gln226Ter | |
| NM_001012727.1:c.580C>T | NP_001012745.1:p.Gln194Ter | |
| NM_006412.3:c.676C>T | NP_006403.2:p.Gln226Ter | |
| NM_006412.4:c.676C>T MANE Select | NP_006403.2:p.Gln226Ter | |
| NM_001012727.2:c.580C>T | NP_001012745.1:p.Gln194Ter |