Linked Data
ClinVar Variation Id:
788693
ClinVar RCV Id:
RCV000971172
dbSNP Id:
rs12407362
ExAC:
1:249144610 G / A
gnomAD v2:
1-249144610-G-A
gnomAD v3:
1-248850411-G-A
gnomAD v4:
1-248850411-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.248850411G>A , CM000663.2:g.248850411G>A | GRCh38 |
| NC_000001.10:g.249144610G>A , CM000663.1:g.249144610G>A | GRCh37 |
| NC_000001.9:g.247111233G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306601.9:c.1359C>T MANE Select | ENSP00000305483.5:p.Cys453= | |
| ENST00000306601.8:c.1359C>T | ENSP00000305483.4:p.Cys453= | |
| ENST00000366471.7:c.1224C>T | ENSP00000355427.3:p.Cys408= | |
| ENST00000412341.6:c.*1069C>T | ENSP00000393552.2:n.*1069C>T | |
| ENST00000451251.5:c.1374C>T | ENSP00000391200.1:p.Cys458= | |
| ENST00000462037.6:n.793C>T | ||
| ENST00000463519.5:c.*1604C>T | ENSP00000436308.1:n.*1604C>T | |
| ENST00000470787.6:n.1415C>T | ||
| ENST00000474351.5:n.840C>T | ||
| ENST00000476503.5:c.619C>T | ||
| ENST00000477070.6:c.1152C>T | ||
| ENST00000482023.5:c.485C>T | ||
| ENST00000533927.5:n.1624C>T | ||
| NM_001136036.2:c.1374C>T | NP_001129508.1:p.Cys458= | |
| NM_001193328.1:c.1224C>T | NP_001180257.1:p.Cys408= | |
| NM_017865.3:c.1359C>T | NP_060335.2:p.Cys453= | |
| XM_011544220.1:c.1812C>T | XP_011542522.1:p.Cys604= | |
| XM_011544221.1:c.1809C>T | XP_011542523.1:p.Cys603= | |
| XM_011544222.1:c.1359C>T | XP_011542524.1:p.Cys453= | |
| XM_011544223.1:c.1677C>T | XP_011542525.1:p.Cys559= | |
| XM_011544225.1:c.1278C>T | XP_011542527.1:p.Cys426= | |
| XM_011544226.1:c.1278C>T | XP_011542528.1:p.Cys426= | |
| XM_011544227.1:c.1278C>T | XP_011542529.1:p.Cys426= | |
| XM_011544228.1:c.747C>T | XP_011542530.1:p.Cys249= | |
| XR_949146.1:n.3072C>T | ||
| XR_949147.1:n.3071C>T | ||
| NM_001350072.1:c.1356C>T | NP_001337001.1:p.Cys452= | |
| NM_001350073.1:c.747C>T | NP_001337002.1:p.Cys249= | |
| XM_011544220.2:c.747C>T | XP_011542522.2:p.Cys249= | |
| XM_011544221.2:c.744C>T | XP_011542523.2:p.Cys248= | |
| XM_011544223.2:c.1677C>T | XP_011542525.1:p.Cys559= | |
| XM_017001698.1:c.1356C>T | XP_016857187.1:p.Cys452= | |
| XM_017001699.2:c.669C>T | XP_016857188.2:p.Cys223= | |
| XM_017001700.1:c.1281C>T | XP_016857189.1:p.Cys427= | |
| XM_017001702.2:c.1281C>T | XP_016857191.1:p.Cys427= | |
| XM_017001704.1:c.747C>T | XP_016857193.1:p.Cys249= | |
| XM_017001705.1:c.747C>T | XP_016857194.1:p.Cys249= | |
| XM_024448274.1:c.747C>T | XP_024304042.1:p.Cys249= | |
| XR_001737293.2:n.1581C>T | ||
| XR_001737294.2:n.2991C>T | ||
| XR_002957066.1:n.1613C>T | ||
| XR_949146.3:n.3067C>T | ||
| XR_949147.3:n.3066C>T | ||
| NM_001136036.3:c.1374C>T | NP_001129508.1:p.Cys458= | |
| NM_001193328.2:c.1224C>T | NP_001180257.1:p.Cys408= | |
| NM_001350072.2:c.1356C>T | NP_001337001.1:p.Cys452= | |
| NM_001350073.2:c.747C>T | NP_001337002.1:p.Cys249= | |
| NM_017865.4:c.1359C>T MANE Select | NP_060335.2:p.Cys453= |