Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74715665G>C , CM000667.2:g.74715665G>C | GRCh38 |
| NC_000005.9:g.74011490G>C , CM000667.1:g.74011490G>C | GRCh37 |
| NC_000005.8:g.74047246G>C | NCBI36 |
| NG_009770.1:g.35522G>C | |
| NG_009770.2:g.80643G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.1057G>C MANE Select | NP_000512.2:p.Gly353Arg |
| ENST00000261416.12:c.1057G>C MANE Select | ENSP00000261416.7:p.Gly353Arg |
| NM_000521.3:c.1057G>C | NP_000512.1:p.Gly353Arg |
| NM_001292004.1:c.382G>C | NP_001278933.1:p.Gly128Arg |
| NM_001292004.2:c.382G>C | NP_001278933.1:p.Gly128Arg |
| ENST00000261416.11:c.1057G>C | ENSP00000261416.7:p.Gly353Arg |
| ENST00000504459.5:n.254G>C | |
| ENST00000511181.5:c.382G>C | ENSP00000426285.1:p.Gly128Arg |
| ENST00000511621.1:n.20G>C | |
| ENST00000513336.5:c.80G>C |