Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119929109C>T , CM000663.2:g.119929109C>T | GRCh38 |
| NC_000001.10:g.120471732C>T , CM000663.1:g.120471732C>T | GRCh37 |
| NC_000001.9:g.120273255C>T | NCBI36 |
| NG_008163.1:g.145545G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.3759G>A MANE Select | NP_077719.2:p.Leu1253= |
| ENST00000256646.7:c.3759G>A MANE Select | ENSP00000256646.2:p.Leu1253= |
| NM_024408.3:c.3759G>A | NP_077719.2:p.Leu1253= |
| ENST00000256646.6:c.3759G>A | ENSP00000256646.2:p.Leu1253= |
| XM_005270901.2:c.3642G>A | XP_005270958.1:p.Leu1214= |
| XM_011541519.1:c.3747G>A | XP_011539821.1:p.Leu1249= |
| XM_011541520.1:c.3642G>A | XP_011539822.1:p.Leu1214= |