Linked Data
ClinVar Variation Id:
1630476
ClinVar RCV Id:
RCV002121221
dbSNP Id:
rs2142974194
gnomAD v4:
17-7221561-G-A
MyVariant Identifiers:
chr17:g.7124880G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221561G>A , CM000679.2:g.7221561G>A | GRCh38 |
| NC_000017.10:g.7124880G>A , CM000679.1:g.7124880G>A | GRCh37 |
| NC_000017.9:g.7065604G>A | NCBI36 |
| NG_007975.1:g.6728G>A | |
| NG_008391.2:g.3490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.501G>A MANE Select | ENSP00000349297.5:p.Val167= | |
| ENST00000322910.9:c.*456G>A | ENSP00000325395.5:n.*456G>A | |
| ENST00000350303.9:c.435G>A | ENSP00000344152.5:p.Val145= | |
| ENST00000356839.9:c.501G>A | ENSP00000349297.5:p.Val167= | |
| ENST00000543245.6:c.570G>A | ENSP00000438689.2:p.Val190= | |
| ENST00000577191.5:n.578G>A | ||
| ENST00000577433.5:n.709G>A | ||
| ENST00000577857.5:n.317G>A | ||
| ENST00000579286.5:n.682G>A | ||
| ENST00000579886.2:c.339G>A | ENSP00000463246.1:p.Val113= | |
| ENST00000580365.1:n.232G>A | ||
| ENST00000581378.5:c.219G>A | ||
| ENST00000581562.5:n.525-391G>A | ||
| ENST00000582166.1:n.482G>A | ||
| ENST00000583312.5:c.501G>A | ENSP00000467920.1:p.Val167= | |
| ENST00000583760.1:n.283G>A | ||
| NM_000018.3:c.501G>A | NP_000009.1:p.Val167= | |
| NM_001033859.2:c.435G>A | NP_001029031.1:p.Val145= | |
| NM_001270447.1:c.570G>A | NP_001257376.1:p.Val190= | |
| NM_001270448.1:c.273G>A | NP_001257377.1:p.Val91= | |
| XM_006721516.2:c.501G>A | XP_006721579.2:p.Val167= | |
| XM_011523829.1:c.501G>A | XP_011522131.1:p.Val167= | |
| XM_011523830.1:c.501G>A | XP_011522132.1:p.Val167= | |
| XR_934021.1:n.608G>A | ||
| XR_934022.1:n.608G>A | ||
| XR_934023.1:n.608G>A | ||
| XM_006721516.3:c.501G>A | XP_006721579.2:p.Val167= | |
| XM_011523829.2:c.501G>A | XP_011522131.1:p.Val167= | |
| XM_011523830.2:c.501G>A | XP_011522132.1:p.Val167= | |
| XM_024450741.1:c.501G>A | XP_024306509.1:p.Val167= | |
| XR_934021.2:n.560G>A | ||
| XR_934022.2:n.560G>A | ||
| XR_934023.2:n.560G>A | ||
| NM_000018.4:c.501G>A MANE Select | NP_000009.1:p.Val167= | |
| NM_001033859.3:c.435G>A | NP_001029031.1:p.Val145= | |
| NM_001270447.2:c.570G>A | NP_001257376.1:p.Val190= | |
| NM_001270448.2:c.273G>A | NP_001257377.1:p.Val91= |