Linked Data
ClinVar Variation Id:
1103526
ClinVar RCV Id:
RCV001427231
dbSNP Id:
rs2142976731
MyVariant Identifiers:
chr17:g.7125308A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221989A>C , CM000679.2:g.7221989A>C | GRCh38 |
| NC_000017.10:g.7125308A>C , CM000679.1:g.7125308A>C | GRCh37 |
| NC_000017.9:g.7066032A>C | NCBI36 |
| NG_007975.1:g.7156A>C | |
| NG_008391.2:g.3062T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.660A>C MANE Select | ENSP00000349297.5:p.Ser220= | |
| ENST00000322910.9:c.*615A>C | ENSP00000325395.5:n.*615A>C | |
| ENST00000350303.9:c.594A>C | ENSP00000344152.5:p.Ser198= | |
| ENST00000356839.9:c.660A>C | ENSP00000349297.5:p.Ser220= | |
| ENST00000543245.6:c.729A>C | ENSP00000438689.2:p.Ser243= | |
| ENST00000577191.5:n.737A>C | ||
| ENST00000577857.5:n.476A>C | ||
| ENST00000579286.5:n.841A>C | ||
| ENST00000580365.1:n.391A>C | ||
| ENST00000581378.5:c.378A>C | ||
| ENST00000581562.5:n.562A>C | ||
| ENST00000582379.1:n.44A>C | ||
| ENST00000583760.1:n.442A>C | ||
| NM_000018.3:c.660A>C | NP_000009.1:p.Ser220= | |
| NM_001033859.2:c.594A>C | NP_001029031.1:p.Ser198= | |
| NM_001270447.1:c.729A>C | NP_001257376.1:p.Ser243= | |
| NM_001270448.1:c.432A>C | NP_001257377.1:p.Ser144= | |
| XM_006721516.2:c.660A>C | XP_006721579.2:p.Ser220= | |
| XM_011523829.1:c.660A>C | XP_011522131.1:p.Ser220= | |
| XM_011523830.1:c.660A>C | XP_011522132.1:p.Ser220= | |
| XR_934021.1:n.767A>C | ||
| XR_934022.1:n.767A>C | ||
| XR_934023.1:n.767A>C | ||
| XM_006721516.3:c.660A>C | XP_006721579.2:p.Ser220= | |
| XM_011523829.2:c.660A>C | XP_011522131.1:p.Ser220= | |
| XM_011523830.2:c.660A>C | XP_011522132.1:p.Ser220= | |
| XM_024450741.1:c.660A>C | XP_024306509.1:p.Ser220= | |
| XR_934021.2:n.719A>C | ||
| XR_934022.2:n.719A>C | ||
| XR_934023.2:n.719A>C | ||
| NM_000018.4:c.660A>C MANE Select | NP_000009.1:p.Ser220= | |
| NM_001033859.3:c.594A>C | NP_001029031.1:p.Ser198= | |
| NM_001270447.2:c.729A>C | NP_001257376.1:p.Ser243= | |
| NM_001270448.2:c.432A>C | NP_001257377.1:p.Ser144= |