Linked Data
dbSNP Id:
rs771839389
ExAC:
4:107151589 A / C
gnomAD v2:
4-107151589-A-C
gnomAD v4:
4-106230432-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106230432A>C , CM000666.2:g.106230432A>C | GRCh38 |
| NC_000004.11:g.107151589A>C , CM000666.1:g.107151589A>C | GRCh37 |
| NC_000004.10:g.107371038A>C | NCBI36 |
| NG_034057.2:g.96064T>G | |
| NG_034057.3:g.91252T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273980.10:c.1705T>G | ENSP00000273980.4:p.Cys569Gly | |
| ENST00000394708.7:c.1705T>G MANE Select | ENSP00000378198.2:p.Cys569Gly | |
| ENST00000273980.9:c.1705T>G | ENSP00000273980.4:p.Cys569Gly | |
| ENST00000361687.8:c.1516T>G | ENSP00000355338.4:p.Cys506Gly | |
| ENST00000394706.7:c.1588T>G | ENSP00000378196.3:p.Cys530Gly | |
| ENST00000394708.6:c.1705T>G | ENSP00000378198.2:p.Cys569Gly | |
| ENST00000432496.6:c.1705T>G | ENSP00000405847.2:p.Cys569Gly | |
| ENST00000467183.6:c.*1344T>G | ENSP00000421182.1:n.*1344T>G | |
| ENST00000506615.1:n.15T>G | ||
| ENST00000510927.5:n.1358T>G | ||
| NM_001163435.2:c.1705T>G | NP_001156907.1:p.Cys569Gly | |
| NM_001163436.2:c.1705T>G | NP_001156908.1:p.Cys569Gly | |
| NM_001163437.2:c.1588T>G | NP_001156909.1:p.Cys530Gly | |
| NM_001290768.1:c.1189T>G | NP_001277697.1:p.Cys397Gly | |
| NM_033115.4:c.1516T>G | NP_149106.2:p.Cys506Gly | |
| XM_006714419.2:c.1705T>G | XP_006714482.1:p.Cys569Gly | |
| XM_011532417.1:c.1705T>G | XP_011530719.1:p.Cys569Gly | |
| XM_011532418.1:c.1387T>G | XP_011530720.1:p.Cys463Gly | |
| XM_011532419.1:c.1189T>G | XP_011530721.1:p.Cys397Gly | |
| XR_938800.1:n.1734T>G | ||
| XM_011532417.2:c.1705T>G | XP_011530719.1:p.Cys569Gly | |
| XM_017008846.1:c.1705T>G | XP_016864335.1:p.Cys569Gly | |
| XM_017008847.2:c.1705T>G | XP_016864336.1:p.Cys569Gly | |
| XM_017008848.1:c.1387T>G | XP_016864337.1:p.Cys463Gly | |
| XM_017008849.1:c.1189T>G | XP_016864338.1:p.Cys397Gly | |
| XM_024454281.1:c.1705T>G | XP_024310049.1:p.Cys569Gly | |
| XM_024454282.1:c.1705T>G | XP_024310050.1:p.Cys569Gly | |
| XR_001741353.2:n.2045T>G | ||
| XR_001741354.2:n.1642T>G | ||
| XR_002959772.1:n.1829T>G | ||
| XR_938800.3:n.2045T>G | ||
| NM_001163435.3:c.1705T>G MANE Select | NP_001156907.2:p.Cys569Gly | |
| NM_001163436.4:c.1705T>G | NP_001156908.2:p.Cys569Gly | |
| NM_001163437.3:c.1588T>G | NP_001156909.2:p.Cys530Gly | |
| NM_001290768.2:c.1189T>G | NP_001277697.2:p.Cys397Gly | |
| NM_033115.5:c.1516T>G | NP_149106.3:p.Cys506Gly |