Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102837311C>T , CM000672.2:g.102837311C>T | GRCh38 |
| NC_000010.10:g.104597068C>T , CM000672.1:g.104597068C>T | GRCh37 |
| NC_000010.9:g.104587058C>T | NCBI36 |
| NG_007955.1:g.5223G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000102.4:c.51G>A MANE Select | NP_000093.1:p.Trp17Ter |
| ENST00000369887.4:c.51G>A MANE Select | ENSP00000358903.3:p.Trp17Ter |
| NM_000102.3:c.51G>A | NP_000093.1:p.Trp17Ter |
| ENST00000369887.3:c.51G>A | ENSP00000358903.3:p.Trp17Ter |
| ENST00000489268.1:n.104G>A | |
| ENST00000638190.1:c.51G>A | ENSP00000492539.1:p.Trp17Ter |
| ENST00000638272.1:c.51G>A | ENSP00000491508.1:p.Trp17Ter |
| ENST00000638971.1:c.51G>A | ENSP00000492313.1:p.Trp17Ter |
| ENST00000639393.1:c.51G>A | ENSP00000492651.1:p.Trp17Ter |