gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421742G>T , CM000663.2:g.197421742G>T | GRCh38 |
| NC_000001.10:g.197390872G>T , CM000663.1:g.197390872G>T | GRCh37 |
| NC_000001.9:g.195657495G>T | NCBI36 |
| NG_008483.1:g.158465G>T | |
| NG_008483.2:g.225281G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1914G>T MANE Select | ENSP00000356370.3:p.Ser638= | |
| ENST00000638467.1:c.1914G>T | ENSP00000491102.1:p.Ser638= | |
| ENST00000681519.1:c.795G>T | ENSP00000505267.1:p.Ser265= | |
| ENST00000367397.1:c.57G>T | ENSP00000356367.1:p.Ser19= | |
| ENST00000367399.6:c.1578G>T | ENSP00000356369.2:p.Ser526= | |
| ENST00000367400.7:c.1914G>T | ENSP00000356370.3:p.Ser638= | |
| ENST00000484075.5:c.1914G>T | ENSP00000433932.1:p.Ser638= | |
| ENST00000535699.5:c.1707G>T | ENSP00000438786.1:p.Ser569= | |
| ENST00000538660.5:c.1914G>T | ENSP00000438091.1:p.Ser638= | |
| NM_001193640.1:c.1578G>T | NP_001180569.1:p.Ser526= | |
| NM_001257965.1:c.1707G>T | NP_001244894.1:p.Ser569= | |
| NM_001257966.1:c.1914G>T | NP_001244895.1:p.Ser638= | |
| NM_201253.2:c.1914G>T | NP_957705.1:p.Ser638= | |
| NR_047563.1:n.1923-8G>T | ||
| NR_047564.1:n.2123G>T | ||
| XM_011509365.1:c.1914G>T | XP_011507667.1:p.Ser638= | |
| XM_011509366.1:c.1914G>T | XP_011507668.1:p.Ser638= | |
| XM_011509367.1:c.1914G>T | XP_011507669.1:p.Ser638= | |
| XM_011509368.1:c.1332G>T | XP_011507670.1:p.Ser444= | |
| XM_011509369.1:c.357G>T | XP_011507671.1:p.Ser119= | |
| XM_011509365.2:c.1914G>T | XP_011507667.1:p.Ser638= | |
| XM_011509369.2:c.357G>T | XP_011507671.1:p.Ser119= | |
| XM_017000851.1:c.1071G>T | XP_016856340.1:p.Ser357= | |
| XM_017000852.1:c.1914G>T | XP_016856341.1:p.Ser638= | |
| NM_201253.3:c.1914G>T MANE Select | NP_957705.1:p.Ser638= | |
| NM_001193640.2:c.1578G>T | NP_001180569.1:p.Ser526= | |
| NM_001257965.2:c.1707G>T | NP_001244894.1:p.Ser569= | |
| NR_047563.2:n.1875-8G>T | ||
| NR_047564.2:n.2075G>T | ||
| NM_001257966.2:c.1914G>T | NP_001244895.1:p.Ser638= |