gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00061429 (EAS)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00069436 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421580C>T , CM000663.2:g.197421580C>T | GRCh38 |
| NC_000001.10:g.197390710C>T , CM000663.1:g.197390710C>T | GRCh37 |
| NC_000001.9:g.195657333C>T | NCBI36 |
| NG_008483.1:g.158303C>T | |
| NG_008483.2:g.225119C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1752C>T MANE Select | ENSP00000356370.3:p.Asp584= | |
| ENST00000638467.1:c.1752C>T | ENSP00000491102.1:p.Asp584= | |
| ENST00000681519.1:c.633C>T | ENSP00000505267.1:p.Asp211= | |
| ENST00000367397.1:c.-106C>T | ENSP00000356367.1:n.-106C>T | |
| ENST00000367399.6:c.1416C>T | ENSP00000356369.2:p.Asp472= | |
| ENST00000367400.7:c.1752C>T | ENSP00000356370.3:p.Asp584= | |
| ENST00000484075.5:c.1752C>T | ENSP00000433932.1:p.Asp584= | |
| ENST00000535699.5:c.1545C>T | ENSP00000438786.1:p.Asp515= | |
| ENST00000538660.5:c.1752C>T | ENSP00000438091.1:p.Asp584= | |
| NM_001193640.1:c.1416C>T | NP_001180569.1:p.Asp472= | |
| NM_001257965.1:c.1545C>T | NP_001244894.1:p.Asp515= | |
| NM_001257966.1:c.1752C>T | NP_001244895.1:p.Asp584= | |
| NM_201253.2:c.1752C>T | NP_957705.1:p.Asp584= | |
| NR_047563.1:n.1922+39C>T | ||
| NR_047564.1:n.1961C>T | ||
| XM_011509365.1:c.1752C>T | XP_011507667.1:p.Asp584= | |
| XM_011509366.1:c.1752C>T | XP_011507668.1:p.Asp584= | |
| XM_011509367.1:c.1752C>T | XP_011507669.1:p.Asp584= | |
| XM_011509368.1:c.1170C>T | XP_011507670.1:p.Asp390= | |
| XM_011509369.1:c.195C>T | XP_011507671.1:p.Asp65= | |
| XM_011509365.2:c.1752C>T | XP_011507667.1:p.Asp584= | |
| XM_011509369.2:c.195C>T | XP_011507671.1:p.Asp65= | |
| XM_017000851.1:c.909C>T | XP_016856340.1:p.Asp303= | |
| XM_017000852.1:c.1752C>T | XP_016856341.1:p.Asp584= | |
| NM_201253.3:c.1752C>T MANE Select | NP_957705.1:p.Asp584= | |
| NM_001193640.2:c.1416C>T | NP_001180569.1:p.Asp472= | |
| NM_001257965.2:c.1545C>T | NP_001244894.1:p.Asp515= | |
| NR_047563.2:n.1874+39C>T | ||
| NR_047564.2:n.1913C>T | ||
| NM_001257966.2:c.1752C>T | NP_001244895.1:p.Asp584= |