Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075619A>G , CM000679.2:g.8075619A>G | GRCh38 |
| NC_000017.10:g.7978937A>G , CM000679.1:g.7978937A>G | GRCh37 |
| NC_000017.9:g.7919662A>G | NCBI36 |
| NG_007099.1:g.17085T>C | |
| NG_007099.2:g.17098T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1630T>C MANE Select | NP_001130.1:p.Cys544Arg |
| ENST00000647874.1:c.1630T>C MANE Select | ENSP00000497784.1:p.Cys544Arg |
| NM_001139.2:c.1630T>C | NP_001130.1:p.Cys544Arg |
| ENST00000319144.4:c.1630T>C | ENSP00000315167.4:p.Cys544Arg |
| ENST00000577351.5:n.479+556T>C | |
| ENST00000649809.1:c.694T>C | ENSP00000496845.1:p.Cys232Arg |