Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120628382A>G , CM000665.2:g.120628382A>G | GRCh38 |
| NC_000003.11:g.120347229A>G , CM000665.1:g.120347229A>G | GRCh37 |
| NC_000003.10:g.121829919A>G | NCBI36 |
| NG_011957.1:g.59100T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1336T>C MANE Select | NP_000178.2:p.Ter446Arg |
| ENST00000283871.10:c.1336T>C MANE Select | ENSP00000283871.5:p.Ter446Arg |
| NM_000187.3:c.1336T>C | NP_000178.2:p.Ter446Arg |
| ENST00000283871.9:c.1336T>C | ENSP00000283871.5:p.Ter446Arg |
| ENST00000492108.5:c.615T>C | ENSP00000419838.1:n.615T>C |
| XM_005247412.1:c.1111T>C | XP_005247469.1:p.Ter371Arg |
| XM_005247412.2:c.1111T>C | XP_005247469.1:p.Ter371Arg |
| XM_017006277.2:c.913T>C | XP_016861766.1:p.Ter305Arg |