Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23868072C>T , CM000663.2:g.23868072C>T | GRCh38 |
| NC_000001.10:g.24194562C>T , CM000663.1:g.24194562C>T | GRCh37 |
| NC_000001.9:g.24067149C>T | NCBI36 |
| NG_013346.1:g.5298G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000147.5:c.215G>A MANE Select | NP_000138.2:p.Trp72Ter |
| ENST00000374479.4:c.215G>A MANE Select | ENSP00000363603.3:p.Trp72Ter |
| NM_000147.4:c.215G>A | NP_000138.2:p.Trp72Ter |
| NR_174379.1:n.219G>A | |
| NR_174380.1:n.219G>A | |
| NR_174381.1:n.219G>A | |
| NR_174382.1:n.219G>A | |
| ENST00000374479.3:c.215G>A | ENSP00000363603.3:p.Trp72Ter |
| XM_005245821.1:c.-335G>A | XP_005245878.1:n.-335G>A |
| XM_005245821.3:c.-335G>A | XP_005245878.1:n.-335G>A |