gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00161109 (EAS)
Genomes Max Group AF
0.00006867 (EAS)
Exomes Max Group AF
0.0017738 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102886946C>T , CM000663.2:g.102886946C>T | GRCh38 |
| NC_000001.10:g.103352502C>T , CM000663.1:g.103352502C>T | GRCh37 |
| NC_000001.9:g.103125090C>T | NCBI36 |
| NG_008033.1:g.226551G>A | |
| NG_008033.2:g.226551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.4719G>A MANE Select | ENSP00000359114.3:p.Ser1573= | |
| ENST00000353414.8:c.4602G>A | ENSP00000302551.6:p.Ser1534= | |
| ENST00000358392.6:c.4755G>A | ENSP00000351163.2:p.Ser1585= | |
| ENST00000370096.7:c.4719G>A | ENSP00000359114.3:p.Ser1573= | |
| ENST00000512756.5:c.4371G>A | ENSP00000426533.1:p.Ser1457= | |
| ENST00000635193.1:c.4053G>A | ||
| NM_001190709.1:c.4602G>A | NP_001177638.1:p.Ser1534= | |
| NM_001854.3:c.4719G>A | NP_001845.3:p.Ser1573= | |
| NM_080629.2:c.4755G>A | NP_542196.2:p.Ser1585= | |
| NM_080630.3:c.4371G>A | NP_542197.3:p.Ser1457= | |
| XM_011540720.1:c.2952G>A | XP_011539022.1:p.Ser984= | |
| XM_011540721.1:c.2307G>A | XP_011539023.1:p.Ser769= | |
| NR_134980.1:n.5053G>A | ||
| XM_017000334.1:c.4872G>A | XP_016855823.1:p.Ser1624= | |
| XM_017000335.1:c.4866G>A | XP_016855824.1:p.Ser1622= | |
| XM_017000337.1:c.3270G>A | XP_016855826.1:p.Ser1090= | |
| NM_001854.4:c.4719G>A MANE Select | NP_001845.3:p.Ser1573= | |
| NM_080630.4:c.4371G>A | NP_542197.3:p.Ser1457= | |
| NR_134980.2:n.5079G>A | ||
| NM_001190709.2:c.4602G>A | NP_001177638.1:p.Ser1534= | |
| NM_080629.3:c.4755G>A | NP_542196.2:p.Ser1585= |