Linked Data
ClinVar Variation Id:
1102652
ClinVar RCV Id:
RCV001426030
dbSNP Id:
rs1484763411
gnomAD v2:
17-7127295-A-G
gnomAD v3:
17-7223976-A-G
gnomAD v4:
17-7223976-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223976A>G , CM000679.2:g.7223976A>G | GRCh38 |
| NC_000017.10:g.7127295A>G , CM000679.1:g.7127295A>G | GRCh37 |
| NC_000017.9:g.7068019A>G | NCBI36 |
| NG_007975.1:g.9143A>G | |
| NG_008391.2:g.1075T>C | |
| NG_033038.1:g.15569T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1341A>G MANE Select | ENSP00000349297.5:p.Gly447= | |
| ENST00000322910.9:c.*1296A>G | ENSP00000325395.5:n.*1296A>G | |
| ENST00000350303.9:c.1275A>G | ENSP00000344152.5:p.Gly425= | |
| ENST00000356839.9:c.1341A>G | ENSP00000349297.5:p.Gly447= | |
| ENST00000542255.6:c.199A>G | ||
| ENST00000543245.6:c.1410A>G | ENSP00000438689.2:p.Gly470= | |
| ENST00000578711.1:n.472A>G | ||
| ENST00000579425.5:n.457A>G | ||
| ENST00000579546.1:c.178A>G | ||
| ENST00000579894.5:n.52A>G | ||
| ENST00000583074.5:n.60A>G | ||
| ENST00000583850.5:n.116A>G | ||
| ENST00000583858.5:c.370A>G | ||
| ENST00000585203.6:n.532A>G | ||
| NM_000018.3:c.1341A>G | NP_000009.1:p.Gly447= | |
| NM_001033859.2:c.1275A>G | NP_001029031.1:p.Gly425= | |
| NM_001270447.1:c.1410A>G | NP_001257376.1:p.Gly470= | |
| NM_001270448.1:c.1113A>G | NP_001257377.1:p.Gly371= | |
| XM_006721516.2:c.1341A>G | XP_006721579.2:p.Gly447= | |
| XM_011523829.1:c.1341A>G | XP_011522131.1:p.Gly447= | |
| XM_011523830.1:c.1341A>G | XP_011522132.1:p.Gly447= | |
| XR_934021.1:n.1448A>G | ||
| XR_934022.1:n.1448A>G | ||
| XR_934023.1:n.1448A>G | ||
| XM_006721516.3:c.1341A>G | XP_006721579.2:p.Gly447= | |
| XM_011523829.2:c.1341A>G | XP_011522131.1:p.Gly447= | |
| XM_011523830.2:c.1341A>G | XP_011522132.1:p.Gly447= | |
| XM_024450741.1:c.1341A>G | XP_024306509.1:p.Gly447= | |
| XR_934021.2:n.1400A>G | ||
| XR_934022.2:n.1400A>G | ||
| XR_934023.2:n.1400A>G | ||
| NM_000018.4:c.1341A>G MANE Select | NP_000009.1:p.Gly447= | |
| NM_001033859.3:c.1275A>G | NP_001029031.1:p.Gly425= | |
| NM_001270447.2:c.1410A>G | NP_001257376.1:p.Gly470= | |
| NM_001270448.2:c.1113A>G | NP_001257377.1:p.Gly371= |