MutSpliceDB:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.125171085C>T , CM000671.2:g.125171085C>T | GRCh38 |
| NC_000009.11:g.127933364C>T , CM000671.1:g.127933364C>T | GRCh37 |
| NC_000009.10:g.126973185C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373547.9:c.171G>A MANE Select | ENSP00000362648.4:p.Gln57= | |
| ENST00000373547.8:c.171G>A | ENSP00000362648.4:p.Gln57= | |
| ENST00000415905.5:c.171G>A | ENSP00000411744.1:p.Gln57= | |
| ENST00000451402.5:c.282G>A | ENSP00000392147.1:p.Gln94= | |
| ENST00000456642.1:c.135G>A | ENSP00000416287.1:p.Gln45= | |
| NM_001123355.1:c.282G>A | NP_001116827.1:p.Gln94= | |
| NM_001123369.1:c.171G>A | NP_001116841.1:p.Gln57= | |
| NM_002721.4:c.171G>A | NP_002712.1:p.Gln57= | |
| XM_011518847.1:c.135G>A | XP_011517149.1:p.Gln45= | |
| XM_011518847.3:c.135G>A | XP_011517149.1:p.Gln45= | |
| XM_024447607.1:c.-63G>A | XP_024303375.1:n.-63G>A | |
| NM_002721.5:c.171G>A MANE Select | NP_002712.1:p.Gln57= | |
| NM_001123355.2:c.282G>A | NP_001116827.1:p.Gln94= | |
| NM_001123369.2:c.171G>A | NP_001116841.1:p.Gln57= |