Linked Data
ClinVar Variation Id:
2013184
ClinVar RCV Id:
RCV002834481
MyVariant Identifiers:
chr17:g.7125317A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221998A>G , CM000679.2:g.7221998A>G | GRCh38 |
| NC_000017.10:g.7125317A>G , CM000679.1:g.7125317A>G | GRCh37 |
| NC_000017.9:g.7066041A>G | NCBI36 |
| NG_007975.1:g.7165A>G | |
| NG_008391.2:g.3053T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.669A>G MANE Select | ENSP00000349297.5:p.Ser223= | |
| ENST00000322910.9:c.*624A>G | ENSP00000325395.5:n.*624A>G | |
| ENST00000350303.9:c.603A>G | ENSP00000344152.5:p.Ser201= | |
| ENST00000356839.9:c.669A>G | ENSP00000349297.5:p.Ser223= | |
| ENST00000543245.6:c.738A>G | ENSP00000438689.2:p.Ser246= | |
| ENST00000577191.5:n.746A>G | ||
| ENST00000577857.5:n.485A>G | ||
| ENST00000579286.5:n.850A>G | ||
| ENST00000580365.1:n.400A>G | ||
| ENST00000581378.5:c.387A>G | ||
| ENST00000581562.5:n.571A>G | ||
| ENST00000582379.1:n.53A>G | ||
| ENST00000583760.1:n.451A>G | ||
| NM_000018.3:c.669A>G | NP_000009.1:p.Ser223= | |
| NM_001033859.2:c.603A>G | NP_001029031.1:p.Ser201= | |
| NM_001270447.1:c.738A>G | NP_001257376.1:p.Ser246= | |
| NM_001270448.1:c.441A>G | NP_001257377.1:p.Ser147= | |
| XM_006721516.2:c.669A>G | XP_006721579.2:p.Ser223= | |
| XM_011523829.1:c.669A>G | XP_011522131.1:p.Ser223= | |
| XM_011523830.1:c.669A>G | XP_011522132.1:p.Ser223= | |
| XR_934021.1:n.776A>G | ||
| XR_934022.1:n.776A>G | ||
| XR_934023.1:n.776A>G | ||
| XM_006721516.3:c.669A>G | XP_006721579.2:p.Ser223= | |
| XM_011523829.2:c.669A>G | XP_011522131.1:p.Ser223= | |
| XM_011523830.2:c.669A>G | XP_011522132.1:p.Ser223= | |
| XM_024450741.1:c.669A>G | XP_024306509.1:p.Ser223= | |
| XR_934021.2:n.728A>G | ||
| XR_934022.2:n.728A>G | ||
| XR_934023.2:n.728A>G | ||
| NM_000018.4:c.669A>G MANE Select | NP_000009.1:p.Ser223= | |
| NM_001033859.3:c.603A>G | NP_001029031.1:p.Ser201= | |
| NM_001270447.2:c.738A>G | NP_001257376.1:p.Ser246= | |
| NM_001270448.2:c.441A>G | NP_001257377.1:p.Ser147= |