Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29254249T>A , CM000679.2:g.29254249T>A | GRCh38 |
| NC_000017.10:g.27581267T>A , CM000679.1:g.27581267T>A | GRCh37 |
| NC_000017.9:g.24605393T>A | NCBI36 |
| NG_008037.1:g.12393T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005208.5:c.548T>A MANE Select | NP_005199.2:p.Leu183Ter |
| ENST00000225387.8:c.548T>A MANE Select | ENSP00000225387.3:p.Leu183Ter |
| NM_005208.4:c.548T>A | NP_005199.2:p.Leu183Ter |
| ENST00000225387.7:c.548T>A | ENSP00000225387.3:p.Leu183Ter |
| ENST00000484605.1:c.396T>A | |
| XM_017024198.1:c.851T>A | XP_016879687.1:p.Leu284Ter |