Linked Data
ClinVar Variation Id:
792494
ClinVar RCV Id:
RCV000975597
dbSNP Id:
rs761849960
ExAC:
17:7126052 A / G
gnomAD v2:
17-7126052-A-G
gnomAD v4:
17-7222733-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222733A>G , CM000679.2:g.7222733A>G | GRCh38 |
| NC_000017.10:g.7126052A>G , CM000679.1:g.7126052A>G | GRCh37 |
| NC_000017.9:g.7066776A>G | NCBI36 |
| NG_007975.1:g.7900A>G | |
| NG_008391.2:g.2318T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.945A>G MANE Select | ENSP00000349297.5:p.Val315= | |
| ENST00000322910.9:c.*900A>G | ENSP00000325395.5:n.*900A>G | |
| ENST00000350303.9:c.879A>G | ENSP00000344152.5:p.Val293= | |
| ENST00000356839.9:c.945A>G | ENSP00000349297.5:p.Val315= | |
| ENST00000543245.6:c.1014A>G | ENSP00000438689.2:p.Val338= | |
| ENST00000578824.5:n.94A>G | ||
| ENST00000581378.5:c.663A>G | ||
| ENST00000582379.1:n.329A>G | ||
| NM_000018.3:c.945A>G | NP_000009.1:p.Val315= | |
| NM_001033859.2:c.879A>G | NP_001029031.1:p.Val293= | |
| NM_001270447.1:c.1014A>G | NP_001257376.1:p.Val338= | |
| NM_001270448.1:c.717A>G | NP_001257377.1:p.Val239= | |
| XM_006721516.2:c.945A>G | XP_006721579.2:p.Val315= | |
| XM_011523829.1:c.945A>G | XP_011522131.1:p.Val315= | |
| XM_011523830.1:c.945A>G | XP_011522132.1:p.Val315= | |
| XR_934021.1:n.1052A>G | ||
| XR_934022.1:n.1052A>G | ||
| XR_934023.1:n.1052A>G | ||
| XM_006721516.3:c.945A>G | XP_006721579.2:p.Val315= | |
| XM_011523829.2:c.945A>G | XP_011522131.1:p.Val315= | |
| XM_011523830.2:c.945A>G | XP_011522132.1:p.Val315= | |
| XM_024450741.1:c.945A>G | XP_024306509.1:p.Val315= | |
| XR_934021.2:n.1004A>G | ||
| XR_934022.2:n.1004A>G | ||
| XR_934023.2:n.1004A>G | ||
| NM_000018.4:c.945A>G MANE Select | NP_000009.1:p.Val315= | |
| NM_001033859.3:c.879A>G | NP_001029031.1:p.Val293= | |
| NM_001270447.2:c.1014A>G | NP_001257376.1:p.Val338= | |
| NM_001270448.2:c.717A>G | NP_001257377.1:p.Val239= |