dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.39219513T>A , CM000667.2:g.39219513T>A | GRCh38 |
| NC_000005.9:g.39219615T>A , CM000667.1:g.39219615T>A | GRCh37 |
| NC_000005.8:g.39255372T>A | NCBI36 |
| NG_029596.1:g.56145A>T | |
| NG_029596.2:g.56145A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351578.12:c.-98A>T | ENSP00000316460.7:n.-98A>T | |
| ENST00000512982.4:c.-98A>T MANE Select | ENSP00000425845.3:n.-98A>T | |
| ENST00000646045.2:c.4-16526A>T | ENSP00000493623.1:n.4-16526A>T | |
| ENST00000351578.10:c.-98A>T | ENSP00000316460.7:n.-98A>T | |
| ENST00000504542.1:c.-539A>T | ENSP00000420989.1:n.-539A>T | |
| ENST00000505428.5:c.-98A>T | ENSP00000427114.1:n.-98A>T | |
| ENST00000506557.5:c.-438A>T | ENSP00000421988.2:n.-438A>T | |
| ENST00000509072.5:c.-472A>T | ENSP00000423888.1:n.-472A>T | |
| ENST00000510188.1:c.-27-16526A>T | ENSP00000426597.1:n.-27-16526A>T | |
| ENST00000512138.1:c.-27-16526A>T | ENSP00000424919.1:n.-27-16526A>T | |
| ENST00000512982.2:c.4-16526A>T | ENSP00000425845.2:n.4-16526A>T | |
| NM_001243093.1:c.4-16526A>T | NP_001230022.1:n.4-16526A>T | |
| NM_001465.4:c.-98A>T | NP_001456.3:n.-98A>T | |
| NM_199335.3:c.-98A>T | NP_955367.1:n.-98A>T | |
| XM_006714464.2:c.-27-16526A>T | XP_006714527.1:n.-27-16526A>T | |
| XM_006714465.2:c.-438A>T | XP_006714528.1:n.-438A>T | |
| XM_011514008.1:c.-509A>T | XP_011512310.1:n.-509A>T | |
| XM_011514009.1:c.-472A>T | XP_011512311.1:n.-472A>T | |
| XM_011514010.1:c.-27-16526A>T | XP_011512312.1:n.-27-16526A>T | |
| XM_011514011.1:c.4-16526A>T | XP_011512313.1:n.4-16526A>T | |
| XM_011514012.1:c.4-16526A>T | XP_011512314.1:n.4-16526A>T | |
| XM_011514013.1:c.4-16526A>T | XP_011512315.1:n.4-16526A>T | |
| NM_001349333.1:c.-438A>T | NP_001336262.1:n.-438A>T | |
| NM_001465.5:c.-98A>T | NP_001456.3:n.-98A>T | |
| NM_018594.2:c.-169A>T | NP_061064.2:n.-169A>T | |
| NM_199335.4:c.-98A>T | NP_955367.1:n.-98A>T | |
| XM_006714464.3:c.-27-16526A>T | XP_006714527.1:n.-27-16526A>T | |
| XM_011514008.3:c.-509A>T | XP_011512310.1:n.-509A>T | |
| XM_011514011.2:c.4-16526A>T | XP_011512313.1:n.4-16526A>T | |
| XM_011514012.3:c.4-16526A>T | XP_011512314.1:n.4-16526A>T | |
| XM_011514013.3:c.4-16526A>T | XP_011512315.1:n.4-16526A>T | |
| NM_001243093.2:c.4-16526A>T | NP_001230022.1:n.4-16526A>T | |
| NM_001349333.2:c.-438A>T | NP_001336262.1:n.-438A>T | |
| NM_001465.6:c.-98A>T MANE Select | NP_001456.3:n.-98A>T | |
| NM_199335.5:c.-98A>T | NP_955367.1:n.-98A>T |