Linked Data
ClinVar Variation Id:
2123273
ClinVar RCV Id:
RCV003047286
MyVariant Identifiers:
chr17:g.7125359T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222040T>C , CM000679.2:g.7222040T>C | GRCh38 |
| NC_000017.10:g.7125359T>C , CM000679.1:g.7125359T>C | GRCh37 |
| NC_000017.9:g.7066083T>C | NCBI36 |
| NG_007975.1:g.7207T>C | |
| NG_008391.2:g.3011A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.711T>C MANE Select | ENSP00000349297.5:p.Cys237= | |
| ENST00000322910.9:c.*666T>C | ENSP00000325395.5:n.*666T>C | |
| ENST00000350303.9:c.645T>C | ENSP00000344152.5:p.Cys215= | |
| ENST00000356839.9:c.711T>C | ENSP00000349297.5:p.Cys237= | |
| ENST00000543245.6:c.780T>C | ENSP00000438689.2:p.Cys260= | |
| ENST00000577191.5:n.788T>C | ||
| ENST00000577857.5:n.527T>C | ||
| ENST00000579286.5:n.892T>C | ||
| ENST00000580365.1:n.442T>C | ||
| ENST00000581378.5:c.429T>C | ||
| ENST00000582379.1:n.95T>C | ||
| ENST00000583760.1:n.493T>C | ||
| NM_000018.3:c.711T>C | NP_000009.1:p.Cys237= | |
| NM_001033859.2:c.645T>C | NP_001029031.1:p.Cys215= | |
| NM_001270447.1:c.780T>C | NP_001257376.1:p.Cys260= | |
| NM_001270448.1:c.483T>C | NP_001257377.1:p.Cys161= | |
| XM_006721516.2:c.711T>C | XP_006721579.2:p.Cys237= | |
| XM_011523829.1:c.711T>C | XP_011522131.1:p.Cys237= | |
| XM_011523830.1:c.711T>C | XP_011522132.1:p.Cys237= | |
| XR_934021.1:n.818T>C | ||
| XR_934022.1:n.818T>C | ||
| XR_934023.1:n.818T>C | ||
| XM_006721516.3:c.711T>C | XP_006721579.2:p.Cys237= | |
| XM_011523829.2:c.711T>C | XP_011522131.1:p.Cys237= | |
| XM_011523830.2:c.711T>C | XP_011522132.1:p.Cys237= | |
| XM_024450741.1:c.711T>C | XP_024306509.1:p.Cys237= | |
| XR_934021.2:n.770T>C | ||
| XR_934022.2:n.770T>C | ||
| XR_934023.2:n.770T>C | ||
| NM_000018.4:c.711T>C MANE Select | NP_000009.1:p.Cys237= | |
| NM_001033859.3:c.645T>C | NP_001029031.1:p.Cys215= | |
| NM_001270447.2:c.780T>C | NP_001257376.1:p.Cys260= | |
| NM_001270448.2:c.483T>C | NP_001257377.1:p.Cys161= |