Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49513169G>C , CM000682.2:g.49513169G>C | GRCh38 |
| NC_000020.10:g.48129706G>C , CM000682.1:g.48129706G>C | GRCh37 |
| NC_000020.9:g.47563113G>C | NCBI36 |
| NG_007940.1:g.60002C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000961.4:c.1117C>G MANE Select | NP_000952.1:p.Arg373Gly |
| ENST00000244043.5:c.1117C>G MANE Select | ENSP00000244043.3:p.Arg373Gly |
| NM_000961.3:c.1117C>G | NP_000952.1:p.Arg373Gly |
| ENST00000244043.4:c.1117C>G | ENSP00000244043.3:p.Arg373Gly |
| ENST00000478971.1:n.938C>G |