Linked Data
ClinVar Variation Id:
641507
dbSNP Id:
rs377044444
ExAC:
17:7128321 C / G
gnomAD v2:
17-7128321-C-G
gnomAD v3:
17-7225002-C-G
gnomAD v4:
17-7225002-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7225002C>G , CM000679.2:g.7225002C>G | GRCh38 |
| NC_000017.10:g.7128321C>G , CM000679.1:g.7128321C>G | GRCh37 |
| NC_000017.9:g.7069045C>G | NCBI36 |
| NG_007975.1:g.10169C>G | |
| NG_008391.2:g.49G>C | |
| NG_033038.1:g.14543G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1873C>G MANE Select | ENSP00000349297.5:p.Pro625Ala | |
| ENST00000322910.9:c.*1828C>G | ENSP00000325395.5:n.*1828C>G | |
| ENST00000350303.9:c.1807C>G | ENSP00000344152.5:p.Pro603Ala | |
| ENST00000356839.9:c.1873C>G | ENSP00000349297.5:p.Pro625Ala | |
| ENST00000542255.6:c.752C>G | ||
| ENST00000543245.6:c.1942C>G | ENSP00000438689.2:p.Pro648Ala | |
| ENST00000578033.1:n.298C>G | ||
| ENST00000578319.5:n.454C>G | ||
| ENST00000578711.1:n.1498C>G | ||
| ENST00000578809.5:n.445C>G | ||
| ENST00000579425.5:n.989C>G | ||
| ENST00000583848.5:c.239C>G | ENSP00000466487.1:n.239C>G | |
| ENST00000583850.5:n.644C>G | ||
| ENST00000583858.5:c.804C>G | ||
| NM_000018.3:c.1873C>G | NP_000009.1:p.Pro625Ala | |
| NM_001033859.2:c.1807C>G | NP_001029031.1:p.Pro603Ala | |
| NM_001270447.1:c.1942C>G | NP_001257376.1:p.Pro648Ala | |
| NM_001270448.1:c.1645C>G | NP_001257377.1:p.Pro549Ala | |
| XM_006721516.2:c.1894C>G | XP_006721579.2:p.Pro632Ala | |
| XM_011523829.1:c.1792C>G | XP_011522131.1:p.Pro598Ala | |
| XM_011523830.1:c.1771C>G | XP_011522132.1:p.Pro591Ala | |
| XR_934021.1:n.1976C>G | ||
| XR_934022.1:n.1882C>G | ||
| XR_934023.1:n.1903C>G | ||
| XM_006721516.3:c.1894C>G | XP_006721579.2:p.Pro632Ala | |
| XM_011523829.2:c.1792C>G | XP_011522131.1:p.Pro598Ala | |
| XM_011523830.2:c.1771C>G | XP_011522132.1:p.Pro591Ala | |
| XM_024450741.1:c.1861C>G | XP_024306509.1:p.Pro621Ala | |
| XR_934021.2:n.1928C>G | ||
| XR_934022.2:n.1834C>G | ||
| XR_934023.2:n.1855C>G | ||
| NM_000018.4:c.1873C>G MANE Select | NP_000009.1:p.Pro625Ala | |
| NM_001033859.3:c.1807C>G | NP_001029031.1:p.Pro603Ala | |
| NM_001270447.2:c.1942C>G | NP_001257376.1:p.Pro648Ala | |
| NM_001270448.2:c.1645C>G | NP_001257377.1:p.Pro549Ala |