Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14129502G>T , CM000665.2:g.14129502G>T | GRCh38 |
| NC_000003.11:g.14171002G>T , CM000665.1:g.14171002G>T | GRCh37 |
| NC_000003.10:g.14146003G>T | NCBI36 |
| NG_008975.1:g.9563G>T , LRG_435:g.9563G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*133G>T | ENSP00000395617.1:n.*133G>T | |
| ENST00000306077.5:c.103G>T MANE Select | ENSP00000303992.5:p.Gly35Trp | |
| ENST00000306077.4:c.103G>T | ENSP00000303992.4:p.Gly35Trp | |
| ENST00000432444.1:c.*133G>T | ENSP00000395617.1:n.*133G>T | |
| NM_024334.2:c.103G>T , LRG_435t1:c.103G>T | NP_077310.1:p.Gly35Trp | |
| XM_011534109.1:c.-3G>T | XP_011532411.1:n.-3G>T | |
| XM_017007176.2:c.-3G>T | XP_016862665.1:n.-3G>T | |
| NM_024334.3:c.103G>T MANE Select | NP_077310.1:p.Gly35Trp |