Linked Data
ClinVar Variation Id:
2802257
ClinVar RCV Id:
RCV003601389
gnomAD v4:
17-7222077-A-G
COSMIC:
COSM5044619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222077A>G , CM000679.2:g.7222077A>G | GRCh38 |
| NC_000017.10:g.7125396A>G , CM000679.1:g.7125396A>G | GRCh37 |
| NC_000017.9:g.7066120A>G | NCBI36 |
| NG_007975.1:g.7244A>G | |
| NG_008391.2:g.2974T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.748A>G MANE Select | ENSP00000349297.5:p.Ile250Val | |
| ENST00000322910.9:c.*703A>G | ENSP00000325395.5:n.*703A>G | |
| ENST00000350303.9:c.682A>G | ENSP00000344152.5:p.Ile228Val | |
| ENST00000356839.9:c.748A>G | ENSP00000349297.5:p.Ile250Val | |
| ENST00000543245.6:c.817A>G | ENSP00000438689.2:p.Ile273Val | |
| ENST00000577191.5:n.825A>G | ||
| ENST00000577857.5:n.564A>G | ||
| ENST00000579286.5:n.929A>G | ||
| ENST00000580365.1:n.479A>G | ||
| ENST00000581378.5:c.466A>G | ||
| ENST00000582379.1:n.132A>G | ||
| ENST00000583760.1:n.530A>G | ||
| NM_000018.3:c.748A>G | NP_000009.1:p.Ile250Val | |
| NM_001033859.2:c.682A>G | NP_001029031.1:p.Ile228Val | |
| NM_001270447.1:c.817A>G | NP_001257376.1:p.Ile273Val | |
| NM_001270448.1:c.520A>G | NP_001257377.1:p.Ile174Val | |
| XM_006721516.2:c.748A>G | XP_006721579.2:p.Ile250Val | |
| XM_011523829.1:c.748A>G | XP_011522131.1:p.Ile250Val | |
| XM_011523830.1:c.748A>G | XP_011522132.1:p.Ile250Val | |
| XR_934021.1:n.855A>G | ||
| XR_934022.1:n.855A>G | ||
| XR_934023.1:n.855A>G | ||
| XM_006721516.3:c.748A>G | XP_006721579.2:p.Ile250Val | |
| XM_011523829.2:c.748A>G | XP_011522131.1:p.Ile250Val | |
| XM_011523830.2:c.748A>G | XP_011522132.1:p.Ile250Val | |
| XM_024450741.1:c.748A>G | XP_024306509.1:p.Ile250Val | |
| XR_934021.2:n.807A>G | ||
| XR_934022.2:n.807A>G | ||
| XR_934023.2:n.807A>G | ||
| NM_000018.4:c.748A>G MANE Select | NP_000009.1:p.Ile250Val | |
| NM_001033859.3:c.682A>G | NP_001029031.1:p.Ile228Val | |
| NM_001270447.2:c.817A>G | NP_001257376.1:p.Ile273Val | |
| NM_001270448.2:c.520A>G | NP_001257377.1:p.Ile174Val |