ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01513518 (EAS)
Genomes Max Group AF
0.01604681 (EAS)
Exomes Max Group AF
0.01469815 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109342050C>A , CM000663.2:g.109342050C>A | GRCh38 |
| NC_000001.10:g.109884672C>A , CM000663.1:g.109884672C>A | GRCh37 |
| NC_000001.9:g.109686195C>A | NCBI36 |
| NG_028280.1:g.60892G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256637.8:c.1072G>T MANE Select | ENSP00000256637.6:p.Asp358Tyr | |
| ENST00000256637.7:c.1072G>T | ENSP00000256637.6:p.Asp358Tyr | |
| ENST00000538502.5:c.661G>T | ENSP00000438597.1:p.Asp221Tyr | |
| NM_001205228.1:c.661G>T | NP_001192157.1:p.Asp221Tyr | |
| NM_002959.5:c.1072G>T | NP_002950.3:p.Asp358Tyr | |
| NM_002959.6:c.1072G>T | NP_002950.3:p.Asp358Tyr | |
| XM_005271100.2:c.1069G>T | XP_005271157.1:p.Asp357Tyr | |
| XM_005271101.1:c.664G>T | XP_005271158.1:p.Asp222Tyr | |
| XM_005271102.1:c.664G>T | XP_005271159.1:p.Asp222Tyr | |
| XM_006710812.1:c.664G>T | XP_006710875.1:p.Asp222Tyr | |
| XM_005271101.3:c.664G>T | XP_005271158.1:p.Asp222Tyr | |
| XM_005271102.2:c.664G>T | XP_005271159.1:p.Asp222Tyr | |
| XM_006710812.2:c.664G>T | XP_006710875.1:p.Asp222Tyr | |
| NM_002959.7:c.1072G>T MANE Select | NP_002950.3:p.Asp358Tyr | |
| NM_001205228.2:c.661G>T | NP_001192157.1:p.Asp221Tyr |