Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7396411T>C , CM000667.2:g.7396411T>C | GRCh38 |
| NC_000005.9:g.7396524T>C , CM000667.1:g.7396524T>C | GRCh37 |
| NC_000005.8:g.7449524T>C | NCBI36 |
| NG_046913.1:g.5182T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338316.9:c.115T>C MANE Select | ENSP00000342952.4:p.Cys39Arg | |
| ENST00000338316.8:c.115T>C | ENSP00000342952.4:p.Cys39Arg | |
| ENST00000537121.5:c.115T>C | ENSP00000444803.2:p.Cys39Arg | |
| NM_020546.2:c.115T>C | NP_065433.2:p.Cys39Arg | |
| XM_011513942.1:c.115T>C | XP_011512244.1:p.Cys39Arg | |
| XR_427657.2:n.129T>C | ||
| XM_011513942.2:c.115T>C | XP_011512244.1:p.Cys39Arg | |
| XR_001741973.1:n.129T>C | ||
| XR_001741974.2:n.129T>C | ||
| NM_020546.3:c.115T>C MANE Select | NP_065433.2:p.Cys39Arg |