Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174747702C>A , CM000664.2:g.174747702C>A | GRCh38 |
| NC_000002.11:g.175612430C>A , CM000664.1:g.175612430C>A | GRCh37 |
| NC_000002.10:g.175320676C>A | NCBI36 |
| NG_008172.1:g.21771G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000079.4:c.*422G>T MANE Select | NP_000070.1:n.*422G>T |
| ENST00000348749.9:c.*422G>T MANE Select | ENSP00000261008.5:n.*422G>T |
| NM_000079.3:c.*422G>T | NP_000070.1:n.*422G>T |
| NM_001039523.2:c.*422G>T | NP_001034612.1:n.*422G>T |
| NM_001039523.3:c.*422G>T | NP_001034612.1:n.*422G>T |
| ENST00000261007.9:c.*422G>T | ENSP00000261007.5:n.*422G>T |
| ENST00000672640.1:c.*422G>T | ENSP00000500507.1:n.*422G>T |
| XM_017003256.1:c.*422G>T | XP_016858745.1:n.*422G>T |
| XM_017003257.1:c.*422G>T | XP_016858746.1:n.*422G>T |