Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12885020C>A , CM000681.2:g.12885020C>A | GRCh38 |
| NC_000019.9:g.12995834C>A , CM000681.1:g.12995834C>A | GRCh37 |
| NC_000019.8:g.12856834C>A | NCBI36 |
| NG_013087.1:g.7184G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.954G>T MANE Select | ENSP00000264834.3:p.Trp318Cys | |
| ENST00000264834.4:c.954G>T | ENSP00000264834.3:p.Trp318Cys | |
| NM_006563.3:c.954G>T | NP_006554.1:p.Trp318Cys | |
| XM_011527642.1:c.840G>T | XP_011525944.1:p.Trp280Cys | |
| NM_006563.4:c.954G>T | NP_006554.1:p.Trp318Cys | |
| XM_011527642.2:c.840G>T | XP_011525944.1:p.Trp280Cys | |
| NM_006563.5:c.954G>T MANE Select | NP_006554.1:p.Trp318Cys |