Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80283937C>T , CM000672.2:g.80283937C>T | GRCh38 |
| NC_000010.10:g.82043693C>T , CM000672.1:g.82043693C>T | GRCh37 |
| NC_000010.9:g.82033673C>T | NCBI36 |
| NG_008083.1:g.10742G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000429.3:c.271G>A MANE Select | NP_000420.1:p.Gly91Ser |
| ENST00000372213.8:c.271G>A MANE Select | ENSP00000361287.3:p.Gly91Ser |
| NM_000429.2:c.271G>A | NP_000420.1:p.Gly91Ser |
| ENST00000372213.7:c.271G>A | ENSP00000361287.3:p.Gly91Ser |
| ENST00000455001.1:c.103+1575G>A | ENSP00000414961.1:n.103+1575G>A |
| XM_005269842.3:c.271G>A | XP_005269899.1:p.Gly91Ser |
| XM_005269843.3:c.169+1575G>A | XP_005269900.1:n.169+1575G>A |