Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55232380A>T , CM000667.2:g.55232380A>T | GRCh38 |
| NC_000005.9:g.54528208A>T , CM000667.1:g.54528208A>T | GRCh37 |
| NC_000005.8:g.54563965A>T | NCBI36 |
| NG_034201.1:g.6338T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021147.5:c.548T>A MANE Select | NP_066970.3:p.Leu183Ter |
| ENST00000282572.5:c.548T>A MANE Select | ENSP00000282572.4:p.Leu183Ter |
| NM_021147.4:c.548T>A | NP_066970.3:p.Leu183Ter |
| NR_125346.1:n.1118T>A | |
| NR_125346.2:n.1009T>A | |
| NR_125347.1:n.747T>A | |
| NR_125347.2:n.638T>A | |
| NR_125348.1:n.612T>A | |
| ENST00000282572.4:c.548T>A | ENSP00000282572.4:p.Leu183Ter |
| ENST00000501463.2:c.*528T>A | ENSP00000422485.1:n.*528T>A |