Linked Data
ClinVar Variation Id:
388745
dbSNP Id:
rs779048354
ExAC:
17:7127676 A / G
gnomAD v2:
17-7127676-A-G
gnomAD v4:
17-7224357-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224357A>G , CM000679.2:g.7224357A>G | GRCh38 |
| NC_000017.10:g.7127676A>G , CM000679.1:g.7127676A>G | GRCh37 |
| NC_000017.9:g.7068400A>G | NCBI36 |
| NG_007975.1:g.9524A>G | |
| NG_008391.2:g.694T>C | |
| NG_033038.1:g.15188T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1569A>G MANE Select | ENSP00000349297.5:p.Gly523= | |
| ENST00000322910.9:c.*1524A>G | ENSP00000325395.5:n.*1524A>G | |
| ENST00000350303.9:c.1503A>G | ENSP00000344152.5:p.Gly501= | |
| ENST00000356839.9:c.1569A>G | ENSP00000349297.5:p.Gly523= | |
| ENST00000542255.6:c.427A>G | ||
| ENST00000543245.6:c.1638A>G | ENSP00000438689.2:p.Gly546= | |
| ENST00000578319.5:n.64A>G | ||
| ENST00000578711.1:n.853A>G | ||
| ENST00000578809.5:n.141A>G | ||
| ENST00000579391.1:n.177A>G | ||
| ENST00000579425.5:n.685A>G | ||
| ENST00000579546.1:c.308A>G | ||
| ENST00000579894.5:n.356A>G | ||
| ENST00000582450.1:n.77A>G | ||
| ENST00000583074.5:n.190A>G | ||
| ENST00000583850.5:n.344A>G | ||
| ENST00000583858.5:c.500A>G | ||
| ENST00000585203.6:n.760A>G | ||
| NM_000018.3:c.1569A>G | NP_000009.1:p.Gly523= | |
| NM_001033859.2:c.1503A>G | NP_001029031.1:p.Gly501= | |
| NM_001270447.1:c.1638A>G | NP_001257376.1:p.Gly546= | |
| NM_001270448.1:c.1341A>G | NP_001257377.1:p.Gly447= | |
| XM_006721516.2:c.1569A>G | XP_006721579.2:p.Gly523= | |
| XM_011523829.1:c.1471A>G | XP_011522131.1:p.Thr491Ala | |
| XM_011523830.1:c.1471A>G | XP_011522132.1:p.Thr491Ala | |
| XR_934021.1:n.1676A>G | ||
| XR_934022.1:n.1578A>G | ||
| XR_934023.1:n.1578A>G | ||
| XM_006721516.3:c.1569A>G | XP_006721579.2:p.Gly523= | |
| XM_011523829.2:c.1471A>G | XP_011522131.1:p.Thr491Ala | |
| XM_011523830.2:c.1471A>G | XP_011522132.1:p.Thr491Ala | |
| XM_024450741.1:c.1471A>G | XP_024306509.1:p.Thr491Ala | |
| XR_934021.2:n.1628A>G | ||
| XR_934022.2:n.1530A>G | ||
| XR_934023.2:n.1530A>G | ||
| NM_000018.4:c.1569A>G MANE Select | NP_000009.1:p.Gly523= | |
| NM_001033859.3:c.1503A>G | NP_001029031.1:p.Gly501= | |
| NM_001270447.2:c.1638A>G | NP_001257376.1:p.Gly546= | |
| NM_001270448.2:c.1341A>G | NP_001257377.1:p.Gly447= |