Linked Data
dbSNP Id:
rs1231602756
gnomAD v2:
17-7128281-A-G
gnomAD v3:
17-7224962-A-G
gnomAD v4:
17-7224962-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224962A>G , CM000679.2:g.7224962A>G | GRCh38 |
| NC_000017.10:g.7128281A>G , CM000679.1:g.7128281A>G | GRCh37 |
| NC_000017.9:g.7069005A>G | NCBI36 |
| NG_007975.1:g.10129A>G | |
| NG_008391.2:g.89T>C | |
| NG_033038.1:g.14583T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1833A>G MANE Select | ENSP00000349297.5:p.Ala611= | |
| ENST00000322910.9:c.*1788A>G | ENSP00000325395.5:n.*1788A>G | |
| ENST00000350303.9:c.1767A>G | ENSP00000344152.5:p.Ala589= | |
| ENST00000356839.9:c.1833A>G | ENSP00000349297.5:p.Ala611= | |
| ENST00000542255.6:c.712A>G | ||
| ENST00000543245.6:c.1902A>G | ENSP00000438689.2:p.Ala634= | |
| ENST00000578033.1:n.258A>G | ||
| ENST00000578319.5:n.414A>G | ||
| ENST00000578711.1:n.1458A>G | ||
| ENST00000578809.5:n.405A>G | ||
| ENST00000579425.5:n.949A>G | ||
| ENST00000579546.1:c.568A>G | ||
| ENST00000583848.5:c.199A>G | ENSP00000466487.1:n.199A>G | |
| ENST00000583850.5:n.604A>G | ||
| ENST00000583858.5:c.764A>G | ||
| NM_000018.3:c.1833A>G | NP_000009.1:p.Ala611= | |
| NM_001033859.2:c.1767A>G | NP_001029031.1:p.Ala589= | |
| NM_001270447.1:c.1902A>G | NP_001257376.1:p.Ala634= | |
| NM_001270448.1:c.1605A>G | NP_001257377.1:p.Ala535= | |
| XM_006721516.2:c.1854A>G | XP_006721579.2:p.Ala618= | |
| XM_011523829.1:c.1752A>G | XP_011522131.1:p.Ala584= | |
| XM_011523830.1:c.1731A>G | XP_011522132.1:p.Ala577= | |
| XR_934021.1:n.1936A>G | ||
| XR_934022.1:n.1842A>G | ||
| XR_934023.1:n.1863A>G | ||
| XM_006721516.3:c.1854A>G | XP_006721579.2:p.Ala618= | |
| XM_011523829.2:c.1752A>G | XP_011522131.1:p.Ala584= | |
| XM_011523830.2:c.1731A>G | XP_011522132.1:p.Ala577= | |
| XM_024450741.1:c.1821A>G | XP_024306509.1:p.Ala607= | |
| XR_934021.2:n.1888A>G | ||
| XR_934022.2:n.1794A>G | ||
| XR_934023.2:n.1815A>G | ||
| NM_000018.4:c.1833A>G MANE Select | NP_000009.1:p.Ala611= | |
| NM_001033859.3:c.1767A>G | NP_001029031.1:p.Ala589= | |
| NM_001270447.2:c.1902A>G | NP_001257376.1:p.Ala634= | |
| NM_001270448.2:c.1605A>G | NP_001257377.1:p.Ala535= |