Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155301390C>T , CM000663.2:g.155301390C>T | GRCh38 |
| NC_000001.10:g.155271181C>T , CM000663.1:g.155271181C>T | GRCh37 |
| NC_000001.9:g.153537805C>T | NCBI36 |
| NG_011677.1:g.5045G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000298.6:c.6G>A MANE Select | NP_000289.1:p.Ser2= |
| ENST00000342741.6:c.6G>A MANE Select | ENSP00000339933.4:p.Ser2= |
| NM_000298.5:c.6G>A | NP_000289.1:p.Ser2= |
| ENST00000342741.4:c.6G>A | ENSP00000339933.4:p.Ser2= |
| XM_005245266.3:c.165G>A | XP_005245323.1:p.Ser55= |
| XM_011509639.1:c.165G>A | XP_011507941.1:p.Ser55= |
| XM_017001493.1:c.6G>A | XP_016856982.1:p.Ser2= |