Linked Data
ClinVar Variation Id:
1512963
ClinVar RCV Id:
RCV002023288
dbSNP Id:
rs1487767890
gnomAD v3:
17-7222788-A-G
gnomAD v4:
17-7222788-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222788A>G , CM000679.2:g.7222788A>G | GRCh38 |
| NC_000017.10:g.7126107A>G , CM000679.1:g.7126107A>G | GRCh37 |
| NC_000017.9:g.7066831A>G | NCBI36 |
| NG_007975.1:g.7955A>G | |
| NG_008391.2:g.2263T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1000A>G MANE Select | ENSP00000349297.5:p.Met334Val | |
| ENST00000322910.9:c.*955A>G | ENSP00000325395.5:n.*955A>G | |
| ENST00000350303.9:c.934A>G | ENSP00000344152.5:p.Met312Val | |
| ENST00000356839.9:c.1000A>G | ENSP00000349297.5:p.Met334Val | |
| ENST00000543245.6:c.1069A>G | ENSP00000438689.2:p.Met357Val | |
| ENST00000578824.5:n.149A>G | ||
| ENST00000581378.5:c.718A>G | ||
| ENST00000582379.1:n.384A>G | ||
| ENST00000583858.5:c.29A>G | ||
| NM_000018.3:c.1000A>G | NP_000009.1:p.Met334Val | |
| NM_001033859.2:c.934A>G | NP_001029031.1:p.Met312Val | |
| NM_001270447.1:c.1069A>G | NP_001257376.1:p.Met357Val | |
| NM_001270448.1:c.772A>G | NP_001257377.1:p.Met258Val | |
| XM_006721516.2:c.1000A>G | XP_006721579.2:p.Met334Val | |
| XM_011523829.1:c.1000A>G | XP_011522131.1:p.Met334Val | |
| XM_011523830.1:c.1000A>G | XP_011522132.1:p.Met334Val | |
| XR_934021.1:n.1107A>G | ||
| XR_934022.1:n.1107A>G | ||
| XR_934023.1:n.1107A>G | ||
| XM_006721516.3:c.1000A>G | XP_006721579.2:p.Met334Val | |
| XM_011523829.2:c.1000A>G | XP_011522131.1:p.Met334Val | |
| XM_011523830.2:c.1000A>G | XP_011522132.1:p.Met334Val | |
| XM_024450741.1:c.1000A>G | XP_024306509.1:p.Met334Val | |
| XR_934021.2:n.1059A>G | ||
| XR_934022.2:n.1059A>G | ||
| XR_934023.2:n.1059A>G | ||
| NM_000018.4:c.1000A>G MANE Select | NP_000009.1:p.Met334Val | |
| NM_001033859.3:c.934A>G | NP_001029031.1:p.Met312Val | |
| NM_001270447.2:c.1069A>G | NP_001257376.1:p.Met357Val | |
| NM_001270448.2:c.772A>G | NP_001257377.1:p.Met258Val |