Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143472266G>T , CM000668.2:g.143472266G>T | GRCh38 |
| NC_000006.11:g.143793403G>T , CM000668.1:g.143793403G>T | GRCh37 |
| NC_000006.10:g.143835096G>T | NCBI36 |
| NG_008459.1:g.26486G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003630.3:c.685G>T MANE Select | NP_003621.1:p.Gly229Ter |
| ENST00000367591.5:c.685G>T MANE Select | ENSP00000356563.4:p.Gly229Ter |
| NM_003630.2:c.685G>T | NP_003621.1:p.Gly229Ter |
| ENST00000367591.4:c.685G>T | ENSP00000356563.4:p.Gly229Ter |