Linked Data
ClinVar Variation Id:
959243
ClinVar RCV Id:
RCV001232551
dbSNP Id:
rs2071233301
COSMIC:
COSM4436786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221651G>C , CM000679.2:g.7221651G>C | GRCh38 |
| NC_000017.10:g.7124970G>C , CM000679.1:g.7124970G>C | GRCh37 |
| NC_000017.9:g.7065694G>C | NCBI36 |
| NG_007975.1:g.6818G>C | |
| NG_008391.2:g.3400C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.591G>C MANE Select | ENSP00000349297.5:p.Gln197His | |
| ENST00000322910.9:c.*546G>C | ENSP00000325395.5:n.*546G>C | |
| ENST00000350303.9:c.525G>C | ENSP00000344152.5:p.Gln175His | |
| ENST00000356839.9:c.591G>C | ENSP00000349297.5:p.Gln197His | |
| ENST00000543245.6:c.660G>C | ENSP00000438689.2:p.Gln220His | |
| ENST00000577191.5:n.668G>C | ||
| ENST00000577433.5:n.799G>C | ||
| ENST00000577857.5:n.407G>C | ||
| ENST00000579286.5:n.772G>C | ||
| ENST00000579886.2:c.429G>C | ENSP00000463246.1:p.Gln143His | |
| ENST00000580365.1:n.322G>C | ||
| ENST00000581378.5:c.309G>C | ||
| ENST00000581562.5:n.525-301G>C | ||
| ENST00000583312.5:c.591G>C | ENSP00000467920.1:p.Gln197His | |
| ENST00000583760.1:n.373G>C | ||
| NM_000018.3:c.591G>C | NP_000009.1:p.Gln197His | |
| NM_001033859.2:c.525G>C | NP_001029031.1:p.Gln175His | |
| NM_001270447.1:c.660G>C | NP_001257376.1:p.Gln220His | |
| NM_001270448.1:c.363G>C | NP_001257377.1:p.Gln121His | |
| XM_006721516.2:c.591G>C | XP_006721579.2:p.Gln197His | |
| XM_011523829.1:c.591G>C | XP_011522131.1:p.Gln197His | |
| XM_011523830.1:c.591G>C | XP_011522132.1:p.Gln197His | |
| XR_934021.1:n.698G>C | ||
| XR_934022.1:n.698G>C | ||
| XR_934023.1:n.698G>C | ||
| XM_006721516.3:c.591G>C | XP_006721579.2:p.Gln197His | |
| XM_011523829.2:c.591G>C | XP_011522131.1:p.Gln197His | |
| XM_011523830.2:c.591G>C | XP_011522132.1:p.Gln197His | |
| XM_024450741.1:c.591G>C | XP_024306509.1:p.Gln197His | |
| XR_934021.2:n.650G>C | ||
| XR_934022.2:n.650G>C | ||
| XR_934023.2:n.650G>C | ||
| NM_000018.4:c.591G>C MANE Select | NP_000009.1:p.Gln197His | |
| NM_001033859.3:c.525G>C | NP_001029031.1:p.Gln175His | |
| NM_001270447.2:c.660G>C | NP_001257376.1:p.Gln220His | |
| NM_001270448.2:c.363G>C | NP_001257377.1:p.Gln121His |