Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74715533T>C , CM000667.2:g.74715533T>C | GRCh38 |
| NC_000005.9:g.74011358T>C , CM000667.1:g.74011358T>C | GRCh37 |
| NC_000005.8:g.74047114T>C | NCBI36 |
| NG_009770.1:g.35390T>C | |
| NG_009770.2:g.80511T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.925T>C MANE Select | NP_000512.2:p.Cys309Arg |
| ENST00000261416.12:c.925T>C MANE Select | ENSP00000261416.7:p.Cys309Arg |
| NM_000521.3:c.925T>C | NP_000512.1:p.Cys309Arg |
| NM_001292004.1:c.250T>C | NP_001278933.1:p.Cys84Arg |
| NM_001292004.2:c.250T>C | NP_001278933.1:p.Cys84Arg |
| ENST00000261416.11:c.925T>C | ENSP00000261416.7:p.Cys309Arg |
| ENST00000504459.5:n.122T>C | |
| ENST00000511181.5:c.250T>C | ENSP00000426285.1:p.Cys84Arg |