Linked Data
ClinVar Variation Id:
1457662
ClinVar RCV Id:
RCV001972690
dbSNP Id:
rs2142982087
gnomAD v4:
17-7223153-T-C
MyVariant Identifiers:
chr17:g.7126472T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223153T>C , CM000679.2:g.7223153T>C | GRCh38 |
| NC_000017.10:g.7126472T>C , CM000679.1:g.7126472T>C | GRCh37 |
| NC_000017.9:g.7067196T>C | NCBI36 |
| NG_007975.1:g.8320T>C | |
| NG_008391.2:g.1898A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1098T>C MANE Select | ENSP00000349297.5:p.Arg366= | |
| ENST00000322910.9:c.*1053T>C | ENSP00000325395.5:n.*1053T>C | |
| ENST00000350303.9:c.1032T>C | ENSP00000344152.5:p.Arg344= | |
| ENST00000356839.9:c.1098T>C | ENSP00000349297.5:p.Arg366= | |
| ENST00000543245.6:c.1167T>C | ENSP00000438689.2:p.Arg389= | |
| ENST00000578579.2:n.47T>C | ||
| ENST00000578824.5:n.514T>C | ||
| ENST00000579425.5:n.122T>C | ||
| ENST00000582379.1:n.749T>C | ||
| ENST00000583858.5:c.127T>C | ||
| ENST00000585203.6:n.306T>C | ||
| NM_000018.3:c.1098T>C | NP_000009.1:p.Arg366= | |
| NM_001033859.2:c.1032T>C | NP_001029031.1:p.Arg344= | |
| NM_001270447.1:c.1167T>C | NP_001257376.1:p.Arg389= | |
| NM_001270448.1:c.870T>C | NP_001257377.1:p.Arg290= | |
| XM_006721516.2:c.1098T>C | XP_006721579.2:p.Arg366= | |
| XM_011523829.1:c.1098T>C | XP_011522131.1:p.Arg366= | |
| XM_011523830.1:c.1098T>C | XP_011522132.1:p.Arg366= | |
| XR_934021.1:n.1205T>C | ||
| XR_934022.1:n.1205T>C | ||
| XR_934023.1:n.1205T>C | ||
| XM_006721516.3:c.1098T>C | XP_006721579.2:p.Arg366= | |
| XM_011523829.2:c.1098T>C | XP_011522131.1:p.Arg366= | |
| XM_011523830.2:c.1098T>C | XP_011522132.1:p.Arg366= | |
| XM_024450741.1:c.1098T>C | XP_024306509.1:p.Arg366= | |
| XR_934021.2:n.1157T>C | ||
| XR_934022.2:n.1157T>C | ||
| XR_934023.2:n.1157T>C | ||
| NM_000018.4:c.1098T>C MANE Select | NP_000009.1:p.Arg366= | |
| NM_001033859.3:c.1032T>C | NP_001029031.1:p.Arg344= | |
| NM_001270447.2:c.1167T>C | NP_001257376.1:p.Arg389= | |
| NM_001270448.2:c.870T>C | NP_001257377.1:p.Arg290= |