Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155301304G>A , CM000663.2:g.155301304G>A | GRCh38 |
| NC_000001.10:g.155271095G>A , CM000663.1:g.155271095G>A | GRCh37 |
| NC_000001.9:g.153537719G>A | NCBI36 |
| NG_011677.1:g.5131C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000298.6:c.92C>T MANE Select | NP_000289.1:p.Ala31Val |
| ENST00000342741.6:c.92C>T MANE Select | ENSP00000339933.4:p.Ala31Val |
| NM_000298.5:c.92C>T | NP_000289.1:p.Ala31Val |
| ENST00000342741.4:c.92C>T | ENSP00000339933.4:p.Ala31Val |
| XM_005245266.3:c.251C>T | XP_005245323.1:p.Ala84Val |
| XM_011509639.1:c.251C>T | XP_011507941.1:p.Ala84Val |
| XM_017001493.1:c.92C>T | XP_016856982.1:p.Ala31Val |