Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80778821G>A , CM000667.2:g.80778821G>A | GRCh38 |
| NC_000005.9:g.80074640G>A , CM000667.1:g.80074640G>A | GRCh37 |
| NC_000005.8:g.80110396G>A | NCBI36 |
| NG_016607.1:g.129347G>A | |
| NG_016607.2:g.129347G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.2420G>A MANE Select | NP_002430.3:p.Trp807Ter |
| ENST00000265081.7:c.2420G>A MANE Select | ENSP00000265081.6:p.Trp807Ter |
| NM_002439.4:c.2420G>A | NP_002430.3:p.Trp807Ter |
| ENST00000265081.6:c.2420G>A | ENSP00000265081.6:p.Trp807Ter |
| ENST00000658259.1:c.2252G>A | ENSP00000499617.1:p.Trp751Ter |
| ENST00000667069.1:c.2225G>A | ENSP00000499502.1:p.Trp742Ter |
| ENST00000670357.1:c.2420G>A | ENSP00000499791.1:p.Trp807Ter |