Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542031C>A , CM000671.2:g.98542031C>A | GRCh38 |
| NC_000009.11:g.101304313C>A , CM000671.1:g.101304313C>A | GRCh37 |
| NC_000009.10:g.100344134C>A | NCBI36 |
| NG_016426.1:g.172167G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.472G>T MANE Select | ENSP00000259455.2:p.Ala158Ser | |
| ENST00000637410.1:n.250G>T | ||
| ENST00000637717.1:c.88G>T | ENSP00000490789.1:p.Ala30Ser | |
| ENST00000638001.1:n.82G>T | ||
| ENST00000259455.3:c.472G>T | ENSP00000259455.2:p.Ala158Ser | |
| ENST00000477471.1:n.259G>T | ||
| ENST00000634227.1:n.246G>T | ||
| NM_005458.7:c.472G>T | NP_005449.5:p.Ala158Ser | |
| XM_017015331.2:c.178G>T | XP_016870820.1:p.Ala60Ser | |
| NM_005458.8:c.472G>T MANE Select | NP_005449.5:p.Ala158Ser |