Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12885022A>G , CM000681.2:g.12885022A>G | GRCh38 |
| NC_000019.9:g.12995836A>G , CM000681.1:g.12995836A>G | GRCh37 |
| NC_000019.8:g.12856836A>G | NCBI36 |
| NG_013087.1:g.7182T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.952T>C MANE Select | ENSP00000264834.3:p.Trp318Arg | |
| ENST00000264834.4:c.952T>C | ENSP00000264834.3:p.Trp318Arg | |
| NM_006563.3:c.952T>C | NP_006554.1:p.Trp318Arg | |
| XM_011527642.1:c.838T>C | XP_011525944.1:p.Trp280Arg | |
| NM_006563.4:c.952T>C | NP_006554.1:p.Trp318Arg | |
| XM_011527642.2:c.838T>C | XP_011525944.1:p.Trp280Arg | |
| NM_006563.5:c.952T>C MANE Select | NP_006554.1:p.Trp318Arg |