Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155301328A>C , CM000663.2:g.155301328A>C | GRCh38 |
| NC_000001.10:g.155271119A>C , CM000663.1:g.155271119A>C | GRCh37 |
| NC_000001.9:g.153537743A>C | NCBI36 |
| NG_011677.1:g.5107T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000298.6:c.68T>G MANE Select | NP_000289.1:p.Leu23Ter |
| ENST00000342741.6:c.68T>G MANE Select | ENSP00000339933.4:p.Leu23Ter |
| NM_000298.5:c.68T>G | NP_000289.1:p.Leu23Ter |
| ENST00000342741.4:c.68T>G | ENSP00000339933.4:p.Leu23Ter |
| XM_005245266.3:c.227T>G | XP_005245323.1:p.Leu76Ter |
| XM_011509639.1:c.227T>G | XP_011507941.1:p.Leu76Ter |
| XM_017001493.1:c.68T>G | XP_016856982.1:p.Leu23Ter |