Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541949G>A , CM000671.2:g.98541949G>A | GRCh38 |
| NC_000009.11:g.101304231G>A , CM000671.1:g.101304231G>A | GRCh37 |
| NC_000009.10:g.100344052G>A | NCBI36 |
| NG_016426.1:g.172249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.554C>T MANE Select | ENSP00000259455.2:p.Ala185Val | |
| ENST00000637410.1:n.332C>T | ||
| ENST00000637717.1:c.170C>T | ENSP00000490789.1:p.Ala57Val | |
| ENST00000259455.3:c.554C>T | ENSP00000259455.2:p.Ala185Val | |
| ENST00000477471.1:n.341C>T | ||
| ENST00000634227.1:n.328C>T | ||
| NM_005458.7:c.554C>T | NP_005449.5:p.Ala185Val | |
| XM_017015331.2:c.260C>T | XP_016870820.1:p.Ala87Val | |
| NM_005458.8:c.554C>T MANE Select | NP_005449.5:p.Ala185Val |