Linked Data
dbSNP Id:
rs12964965
gnomAD v2:
18-3520555-T-C
gnomAD v3:
18-3520557-T-C
gnomAD v4:
18-3520557-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.3520557T>C , CM000680.2:g.3520557T>C | GRCh38 |
| NC_000018.9:g.3520555T>C , CM000680.1:g.3520555T>C | GRCh37 |
| NC_000018.8:g.3510555T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706956.1:c.1712-11896A>G | ENSP00000516677.1:n.1712-11896A>G | |
| ENST00000315677.8:c.2480-11896A>G MANE Select | ENSP00000316377.3:n.2480-11896A>G | |
| ENST00000315677.7:c.2480-11896A>G | ENSP00000316377.3:n.2480-11896A>G | |
| ENST00000400145.6:c.1574-11896A>G | ENSP00000383010.2:n.1574-11896A>G | |
| ENST00000400147.6:c.1574-11896A>G | ENSP00000383011.2:n.1574-11896A>G | |
| ENST00000400149.7:c.1550-11896A>G | ENSP00000383013.3:n.1550-11896A>G | |
| ENST00000400150.7:c.1628-11896A>G | ENSP00000383014.3:n.1628-11896A>G | |
| ENST00000400155.5:c.1598-11896A>G | ENSP00000383019.1:n.1598-11896A>G | |
| ENST00000515196.6:c.1646-11896A>G | ENSP00000445973.2:n.1646-11896A>G | |
| ENST00000534970.5:c.1532-11896A>G | ENSP00000437817.1:n.1532-11896A>G | |
| ENST00000539435.5:c.1604-11896A>G | ENSP00000446312.1:n.1604-11896A>G | |
| ENST00000581527.5:c.2480-11896A>G | ENSP00000463864.1:n.2480-11896A>G | |
| ENST00000581699.5:c.1598-11896A>G | ENSP00000462848.1:n.1598-11896A>G | |
| ENST00000584874.5:c.2480-11896A>G | ENSP00000462882.1:n.2480-11896A>G | |
| NM_001003809.2:c.1574-11896A>G | NP_001003809.1:n.1574-11896A>G | |
| NM_001242761.1:c.2480-11896A>G | NP_001229690.1:n.2480-11896A>G | |
| NM_001242762.1:c.1532-11896A>G | NP_001229691.1:n.1532-11896A>G | |
| NM_001242763.1:c.1646-11896A>G | NP_001229692.1:n.1646-11896A>G | |
| NM_001242764.1:c.1598-11896A>G | NP_001229693.1:n.1598-11896A>G | |
| NM_001242765.1:c.1574-11896A>G | NP_001229694.1:n.1574-11896A>G | |
| NM_001242766.1:c.1604-11896A>G | NP_001229695.1:n.1604-11896A>G | |
| NM_001308390.1:c.1628-11896A>G | NP_001295319.1:n.1628-11896A>G | |
| NM_004746.3:c.2480-11896A>G | NP_004737.2:n.2480-11896A>G | |
| XM_005258171.1:c.2510-11896A>G | XP_005258228.1:n.2510-11896A>G | |
| XM_005258172.1:c.2510-11896A>G | XP_005258229.1:n.2510-11896A>G | |
| XM_005258173.2:c.1760-11896A>G | XP_005258230.1:n.1760-11896A>G | |
| XM_005258174.3:c.1634-11896A>G | XP_005258231.1:n.1634-11896A>G | |
| XM_006722367.2:c.1742-11896A>G | XP_006722430.1:n.1742-11896A>G | |
| XM_005258171.3:c.2510-11896A>G | XP_005258228.1:n.2510-11896A>G | |
| XM_005258173.3:c.1841-11896A>G | XP_005258230.2:n.1841-11896A>G | |
| XM_005258174.4:c.1634-11896A>G | XP_005258231.1:n.1634-11896A>G | |
| XM_006722367.3:c.1742-11896A>G | XP_006722430.1:n.1742-11896A>G | |
| XM_017026080.1:c.1712-11896A>G | XP_016881569.1:n.1712-11896A>G | |
| XM_017026081.1:c.1616-11896A>G | XP_016881570.1:n.1616-11896A>G | |
| XM_017026082.1:c.1811-11896A>G | XP_016881571.1:n.1811-11896A>G | |
| XM_017026083.1:c.1604-11896A>G | XP_016881572.1:n.1604-11896A>G | |
| XM_017026084.1:c.1604-11896A>G | XP_016881573.1:n.1604-11896A>G | |
| XM_017026085.2:c.1598-11896A>G | XP_016881574.1:n.1598-11896A>G | |
| XM_024451288.1:c.2510-11896A>G | XP_024307056.1:n.2510-11896A>G | |
| NM_004746.4:c.2480-11896A>G MANE Select | NP_004737.2:n.2480-11896A>G | |
| NM_001003809.3:c.1574-11896A>G | NP_001003809.1:n.1574-11896A>G | |
| NM_001242762.2:c.1532-11896A>G | NP_001229691.1:n.1532-11896A>G | |
| NM_001242764.2:c.1598-11896A>G | NP_001229693.1:n.1598-11896A>G | |
| NM_001242766.2:c.1604-11896A>G | NP_001229695.1:n.1604-11896A>G | |
| NM_001308390.2:c.1628-11896A>G | NP_001295319.1:n.1628-11896A>G | |
| NM_001242761.2:c.2480-11896A>G | NP_001229690.1:n.2480-11896A>G | |
| NM_001242763.2:c.1646-11896A>G | NP_001229692.1:n.1646-11896A>G | |
| NM_001242765.2:c.1574-11896A>G | NP_001229694.1:n.1574-11896A>G | |
| NM_001398525.1:c.2510-11896A>G | NP_001385454.1:n.2510-11896A>G | |
| NM_001398526.1:c.2510-11896A>G | NP_001385455.1:n.2510-11896A>G | |
| NM_001398527.1:c.2480-11896A>G | NP_001385456.1:n.2480-11896A>G | |
| NM_001398528.1:c.2510-11896A>G | NP_001385457.1:n.2510-11896A>G | |
| NM_001398530.1:c.1760-11896A>G | NP_001385459.1:n.1760-11896A>G | |
| NM_001398531.1:c.1742-11896A>G | NP_001385460.1:n.1742-11896A>G | |
| NM_001398532.1:c.1634-11896A>G | NP_001385461.1:n.1634-11896A>G | |
| NM_001398533.1:c.1616-11896A>G | NP_001385462.1:n.1616-11896A>G | |
| NM_001398534.1:c.1604-11896A>G | NP_001385463.1:n.1604-11896A>G | |
| NM_001398535.1:c.1730-11896A>G | NP_001385464.1:n.1730-11896A>G | |
| NM_001398536.1:c.1718-11896A>G | NP_001385465.1:n.1718-11896A>G | |
| NM_001398537.1:c.1712-11896A>G | NP_001385466.1:n.1712-11896A>G | |
| NM_001398539.1:c.1646-11896A>G | NP_001385468.1:n.1646-11896A>G | |
| NM_001398540.1:c.1634-11896A>G | NP_001385469.1:n.1634-11896A>G | |
| NM_001398541.1:c.1628-11896A>G | NP_001385470.1:n.1628-11896A>G | |
| NM_001398542.1:c.1616-11896A>G | NP_001385471.1:n.1616-11896A>G | |
| NM_001398543.1:c.1604-11896A>G | NP_001385472.1:n.1604-11896A>G | |
| NM_001398544.1:c.1604-11896A>G | NP_001385473.1:n.1604-11896A>G | |
| NM_001398545.1:c.1598-11896A>G | NP_001385474.1:n.1598-11896A>G | |
| NM_001398546.1:c.1514-11896A>G | NP_001385475.1:n.1514-11896A>G |