Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68440911G>A , CM000663.2:g.68440911G>A | GRCh38 |
| NC_000001.10:g.68906594G>A , CM000663.1:g.68906594G>A | GRCh37 |
| NC_000001.9:g.68679182G>A | NCBI36 |
| NG_008472.1:g.14049C>T | |
| NG_008472.2:g.14049C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.585C>T MANE Select | NP_000320.1:p.Cys195= |
| ENST00000262340.6:c.585C>T MANE Select | ENSP00000262340.5:p.Cys195= |
| NM_000329.2:c.585C>T | NP_000320.1:p.Cys195= |
| ENST00000262340.5:c.585C>T | ENSP00000262340.5:p.Cys195= |
| XM_017002027.1:c.309C>T | XP_016857516.1:p.Cys103= |