Linked Data
dbSNP Id:
rs533531053
ExAC:
17:7125221 G / A
gnomAD v2:
17-7125221-G-A
gnomAD v3:
17-7221902-G-A
gnomAD v4:
17-7221902-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221902G>A , CM000679.2:g.7221902G>A | GRCh38 |
| NC_000017.10:g.7125221G>A , CM000679.1:g.7125221G>A | GRCh37 |
| NC_000017.9:g.7065945G>A | NCBI36 |
| NG_007975.1:g.7069G>A | |
| NG_008391.2:g.3149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.623-50G>A MANE Select | ENSP00000349297.5:n.623-50G>A | |
| ENST00000322910.9:c.*578-50G>A | ENSP00000325395.5:n.*578-50G>A | |
| ENST00000350303.9:c.557-50G>A | ENSP00000344152.5:n.557-50G>A | |
| ENST00000356839.9:c.623-50G>A | ENSP00000349297.5:n.623-50G>A | |
| ENST00000543245.6:c.692-50G>A | ENSP00000438689.2:n.692-50G>A | |
| ENST00000577191.5:n.700-50G>A | ||
| ENST00000577857.5:n.439-50G>A | ||
| ENST00000579286.5:n.804-50G>A | ||
| ENST00000579886.2:c.461-50G>A | ENSP00000463246.1:n.461-50G>A | |
| ENST00000580365.1:n.354-50G>A | ||
| ENST00000581378.5:c.341-50G>A | ||
| ENST00000581562.5:n.525-50G>A | ||
| ENST00000583312.5:c.623-35G>A | ENSP00000467920.1:n.623-35G>A | |
| ENST00000583760.1:n.405-50G>A | ||
| NM_000018.3:c.623-50G>A | NP_000009.1:n.623-50G>A | |
| NM_001033859.2:c.557-50G>A | NP_001029031.1:n.557-50G>A | |
| NM_001270447.1:c.692-50G>A | NP_001257376.1:n.692-50G>A | |
| NM_001270448.1:c.395-50G>A | NP_001257377.1:n.395-50G>A | |
| XM_006721516.2:c.623-50G>A | XP_006721579.2:n.623-50G>A | |
| XM_011523829.1:c.623-50G>A | XP_011522131.1:n.623-50G>A | |
| XM_011523830.1:c.623-50G>A | XP_011522132.1:n.623-50G>A | |
| XR_934021.1:n.730-50G>A | ||
| XR_934022.1:n.730-50G>A | ||
| XR_934023.1:n.730-50G>A | ||
| XM_006721516.3:c.623-50G>A | XP_006721579.2:n.623-50G>A | |
| XM_011523829.2:c.623-50G>A | XP_011522131.1:n.623-50G>A | |
| XM_011523830.2:c.623-50G>A | XP_011522132.1:n.623-50G>A | |
| XM_024450741.1:c.623-50G>A | XP_024306509.1:n.623-50G>A | |
| XR_934021.2:n.682-50G>A | ||
| XR_934022.2:n.682-50G>A | ||
| XR_934023.2:n.682-50G>A | ||
| NM_000018.4:c.623-50G>A MANE Select | NP_000009.1:n.623-50G>A | |
| NM_001033859.3:c.557-50G>A | NP_001029031.1:n.557-50G>A | |
| NM_001270447.2:c.692-50G>A | NP_001257376.1:n.692-50G>A | |
| NM_001270448.2:c.395-50G>A | NP_001257377.1:n.395-50G>A |