Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69572673G>C , CM000672.2:g.69572673G>C | GRCh38 |
| NC_000010.10:g.71332429G>C , CM000672.1:g.71332429G>C | GRCh37 |
| NC_000010.9:g.71002435G>C | NCBI36 |
| NG_021321.1:g.5782C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020999.4:c.371C>G MANE Select | NP_066279.2:p.Thr124Arg |
| ENST00000242462.5:c.371C>G MANE Select | ENSP00000242462.4:p.Thr124Arg |
| NM_020999.3:c.371C>G | NP_066279.2:p.Thr124Arg |
| ENST00000242462.4:c.371C>G | ENSP00000242462.4:p.Thr124Arg |
| XM_017016280.1:c.371C>G | XP_016871769.1:p.Thr124Arg |