Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43353172C>T , CM000663.2:g.43353172C>T | GRCh38 |
| NC_000001.10:g.43818843C>T , CM000663.1:g.43818843C>T | GRCh37 |
| NC_000001.9:g.43591430C>T | NCBI36 |
| NG_007525.1:g.20369C>T , LRG_510:g.20369C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005373.3:c.*400C>T MANE Select | NP_005364.1:n.*400C>T |
| ENST00000372470.9:c.*400C>T MANE Select | ENSP00000361548.3:n.*400C>T |
| NM_005373.2:c.*400C>T , LRG_510t1:c.*400C>T | NP_005364.1:n.*400C>T |
| XM_011541478.1:c.*400C>T | XP_011539780.1:n.*400C>T |
| XM_017001320.1:c.*400C>T | XP_016856809.1:n.*400C>T |