Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893197T>C , CM000664.2:g.218893197T>C | GRCh38 |
| NC_000002.11:g.219757919T>C , CM000664.1:g.219757919T>C | GRCh37 |
| NC_000002.10:g.219466163T>C | NCBI36 |
| NG_012179.1:g.17665T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1180T>C MANE Select | ENSP00000258411.3:p.Cys394Arg | |
| ENST00000258411.7:c.1180T>C | ENSP00000258411.3:p.Cys394Arg | |
| NM_025216.2:c.1180T>C | NP_079492.2:p.Cys394Arg | |
| XM_011511928.1:c.1129T>C | XP_011510230.1:p.Cys377Arg | |
| XM_011511929.1:c.1084T>C | XP_011510231.1:p.Cys362Arg | |
| XM_011511930.1:c.800T>C | XP_011510232.1:p.Leu267Pro | |
| XM_011511929.2:c.1084T>C | XP_011510231.1:p.Cys362Arg | |
| NM_025216.3:c.1180T>C MANE Select | NP_079492.2:p.Cys394Arg |