Linked Data
ClinVar Variation Id:
977036
ClinVar RCV Id:
RCV001254555
dbSNP Id:
rs1242137800
gnomAD v2:
9-80919844-G-T
gnomAD v4:
9-78304928-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304928G>T , CM000671.2:g.78304928G>T | GRCh38 |
| NC_000009.11:g.80919844G>T , CM000671.1:g.80919844G>T | GRCh37 |
| NC_000009.10:g.80109664G>T | NCBI36 |
| NG_012165.1:g.12786G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.385G>T MANE Select | ENSP00000365773.3:p.Gly129Trp | |
| ENST00000347159.6:c.385G>T | ENSP00000317606.2:p.Gly129Trp | |
| ENST00000376588.3:c.385G>T | ENSP00000365773.3:p.Gly129Trp | |
| NM_021154.4:c.385G>T | NP_066977.1:p.Gly129Trp | |
| NM_058179.3:c.385G>T | NP_478059.1:p.Gly129Trp | |
| NM_058179.4:c.385G>T MANE Select | NP_478059.1:p.Gly129Trp | |
| NM_021154.5:c.385G>T | NP_066977.1:p.Gly129Trp |