Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.157098880C>T , CM000663.2:g.157098880C>T | GRCh38 |
| NC_000001.10:g.157068672C>T , CM000663.1:g.157068672C>T | GRCh37 |
| NC_000001.9:g.155335296C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004341.2:c.312G>A MANE Select | NP_001004341.1:p.Lys104= |
| ENST00000454449.3:c.312G>A MANE Select | ENSP00000430271.1:p.Lys104= |
| ENST00000454449.2:c.312G>A | ENSP00000430271.1:p.Lys104= |
| ENST00000671886.1:c.312G>A | ENSP00000500322.1:p.Lys104= |
| ENST00000671942.1:c.312G>A | ENSP00000500028.1:p.Lys104= |
| ENST00000672100.1:c.312G>A | ENSP00000500154.1:p.Lys104= |
| XM_024447166.1:c.312G>A | XP_024302934.1:p.Lys104= |