Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25340533G>T , CM000663.2:g.25340533G>T | GRCh38 |
| NC_000001.10:g.25667024G>T , CM000663.1:g.25667024G>T | GRCh37 |
| NC_000001.9:g.25539611G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014313.4:c.47G>T MANE Select | NP_055128.1:p.Trp16Leu |
| ENST00000374358.5:c.47G>T MANE Select | ENSP00000363478.4:p.Trp16Leu |
| NM_014313.3:c.47G>T | NP_055128.1:p.Trp16Leu |
| ENST00000374358.4:c.47G>T | ENSP00000363478.4:p.Trp16Leu |
| ENST00000468704.1:n.418G>T | |
| ENST00000480937.5:n.194G>T | |
| ENST00000491936.5:n.137+2077G>T | |
| ENST00000498135.5:n.200G>T | |
| XM_005245817.1:c.47G>T | XP_005245874.1:p.Trp16Leu |
| XM_011541159.1:c.47G>T | XP_011539461.1:p.Trp16Leu |
| XM_011541159.2:c.47G>T | XP_011539461.1:p.Trp16Leu |