Linked Data
dbSNP Id:
rs781613690
ExAC:
17:7127809 C / G
gnomAD v2:
17-7127809-C-G
gnomAD v4:
17-7224490-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224490C>G , CM000679.2:g.7224490C>G | GRCh38 |
| NC_000017.10:g.7127809C>G , CM000679.1:g.7127809C>G | GRCh37 |
| NC_000017.9:g.7068533C>G | NCBI36 |
| NG_007975.1:g.9657C>G | |
| NG_008391.2:g.561G>C | |
| NG_033038.1:g.15055G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1616C>G MANE Select | ENSP00000349297.5:p.Ala539Gly | |
| ENST00000322910.9:c.*1571C>G | ENSP00000325395.5:n.*1571C>G | |
| ENST00000350303.9:c.1550C>G | ENSP00000344152.5:p.Ala517Gly | |
| ENST00000356839.9:c.1616C>G | ENSP00000349297.5:p.Ala539Gly | |
| ENST00000542255.6:c.474C>G | ||
| ENST00000543245.6:c.1685C>G | ENSP00000438689.2:p.Ala562Gly | |
| ENST00000578319.5:n.197C>G | ||
| ENST00000578711.1:n.986C>G | ||
| ENST00000578809.5:n.188C>G | ||
| ENST00000579391.1:n.220C>G | ||
| ENST00000579425.5:n.732C>G | ||
| ENST00000579546.1:c.351C>G | ||
| ENST00000579894.5:n.403C>G | ||
| ENST00000582450.1:n.124C>G | ||
| ENST00000583074.5:n.237C>G | ||
| ENST00000583848.5:c.2C>G | ENSP00000466487.1:p.Ala1Gly | |
| ENST00000583850.5:n.387C>G | ||
| ENST00000583858.5:c.547C>G | ||
| ENST00000585203.6:n.807C>G | ||
| NM_000018.3:c.1616C>G | NP_000009.1:p.Ala539Gly | |
| NM_001033859.2:c.1550C>G | NP_001029031.1:p.Ala517Gly | |
| NM_001270447.1:c.1685C>G | NP_001257376.1:p.Ala562Gly | |
| NM_001270448.1:c.1388C>G | NP_001257377.1:p.Ala463Gly | |
| XM_006721516.2:c.1616C>G | XP_006721579.2:p.Ala539Gly | |
| XM_011523829.1:c.1514C>G | XP_011522131.1:p.Ala505Gly | |
| XM_011523830.1:c.1514C>G | XP_011522132.1:p.Ala505Gly | |
| XR_934021.1:n.1719C>G | ||
| XR_934022.1:n.1625C>G | ||
| XR_934023.1:n.1625C>G | ||
| XM_006721516.3:c.1616C>G | XP_006721579.2:p.Ala539Gly | |
| XM_011523829.2:c.1514C>G | XP_011522131.1:p.Ala505Gly | |
| XM_011523830.2:c.1514C>G | XP_011522132.1:p.Ala505Gly | |
| XM_024450741.1:c.1604C>G | XP_024306509.1:p.Ala535Gly | |
| XR_934021.2:n.1671C>G | ||
| XR_934022.2:n.1577C>G | ||
| XR_934023.2:n.1577C>G | ||
| NM_000018.4:c.1616C>G MANE Select | NP_000009.1:p.Ala539Gly | |
| NM_001033859.3:c.1550C>G | NP_001029031.1:p.Ala517Gly | |
| NM_001270447.2:c.1685C>G | NP_001257376.1:p.Ala562Gly | |
| NM_001270448.2:c.1388C>G | NP_001257377.1:p.Ala463Gly |