Linked Data
ClinVar Variation Id:
993008
ClinVar RCV Id:
RCV001552272
dbSNP Id:
rs1249398093
gnomAD v4:
9-101424955-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101424955C>T , CM000671.2:g.101424955C>T | GRCh38 |
| NC_000009.11:g.104187237C>T , CM000671.1:g.104187237C>T | GRCh37 |
| NC_000009.10:g.103227058C>T | NCBI36 |
| NG_012387.1:g.15826G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.887G>A MANE Select | ENSP00000497767.1:p.Trp296Ter | |
| ENST00000648064.1:c.887G>A | ENSP00000497990.1:p.Trp296Ter | |
| ENST00000648758.1:c.887G>A | ENSP00000497731.1:p.Trp296Ter | |
| ENST00000649902.1:c.887G>A | ENSP00000497216.1:p.Trp296Ter | |
| ENST00000374855.8:c.887G>A | ENSP00000363988.4:p.Trp296Ter | |
| ENST00000616752.1:c.887G>A | ENSP00000481363.1:p.Trp296Ter | |
| NM_000035.3:c.887G>A | NP_000026.2:p.Trp296Ter | |
| NM_000035.4:c.887G>A MANE Select | NP_000026.2:p.Trp296Ter |