Linked Data
dbSNP Id:
rs1826628343
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794510C>T , CM000671.2:g.77794510C>T | GRCh38 |
| NC_000009.11:g.80409426C>T , CM000671.1:g.80409426C>T | GRCh37 |
| NC_000009.10:g.79599246C>T | NCBI36 |
| NG_027904.2:g.241794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.688G>A MANE Select | ENSP00000286548.4:p.Val230Ile | |
| ENST00000286548.8:c.688G>A | ENSP00000286548.4:p.Val230Ile | |
| NM_002072.4:c.688G>A | NP_002063.2:p.Val230Ile | |
| XM_017014628.2:c.514G>A | XP_016870117.1:p.Val172Ile | |
| NM_002072.5:c.688G>A MANE Select | NP_002063.2:p.Val230Ile |