Linked Data
ClinVar Variation Id:
1748838
gnomAD v4:
17-7221624-C-G
MyVariant Identifiers:
chr17:g.7124943C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221624C>G , CM000679.2:g.7221624C>G | GRCh38 |
| NC_000017.10:g.7124943C>G , CM000679.1:g.7124943C>G | GRCh37 |
| NC_000017.9:g.7065667C>G | NCBI36 |
| NG_007975.1:g.6791C>G | |
| NG_008391.2:g.3427G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.564C>G MANE Select | ENSP00000349297.5:p.Gly188= | |
| ENST00000322910.9:c.*519C>G | ENSP00000325395.5:n.*519C>G | |
| ENST00000350303.9:c.498C>G | ENSP00000344152.5:p.Gly166= | |
| ENST00000356839.9:c.564C>G | ENSP00000349297.5:p.Gly188= | |
| ENST00000543245.6:c.633C>G | ENSP00000438689.2:p.Gly211= | |
| ENST00000577191.5:n.641C>G | ||
| ENST00000577433.5:n.772C>G | ||
| ENST00000577857.5:n.380C>G | ||
| ENST00000579286.5:n.745C>G | ||
| ENST00000579886.2:c.402C>G | ENSP00000463246.1:p.Gly134= | |
| ENST00000580365.1:n.295C>G | ||
| ENST00000581378.5:c.282C>G | ||
| ENST00000581562.5:n.525-328C>G | ||
| ENST00000582166.1:n.545C>G | ||
| ENST00000583312.5:c.564C>G | ENSP00000467920.1:p.Gly188= | |
| ENST00000583760.1:n.346C>G | ||
| NM_000018.3:c.564C>G | NP_000009.1:p.Gly188= | |
| NM_001033859.2:c.498C>G | NP_001029031.1:p.Gly166= | |
| NM_001270447.1:c.633C>G | NP_001257376.1:p.Gly211= | |
| NM_001270448.1:c.336C>G | NP_001257377.1:p.Gly112= | |
| XM_006721516.2:c.564C>G | XP_006721579.2:p.Gly188= | |
| XM_011523829.1:c.564C>G | XP_011522131.1:p.Gly188= | |
| XM_011523830.1:c.564C>G | XP_011522132.1:p.Gly188= | |
| XR_934021.1:n.671C>G | ||
| XR_934022.1:n.671C>G | ||
| XR_934023.1:n.671C>G | ||
| XM_006721516.3:c.564C>G | XP_006721579.2:p.Gly188= | |
| XM_011523829.2:c.564C>G | XP_011522131.1:p.Gly188= | |
| XM_011523830.2:c.564C>G | XP_011522132.1:p.Gly188= | |
| XM_024450741.1:c.564C>G | XP_024306509.1:p.Gly188= | |
| XR_934021.2:n.623C>G | ||
| XR_934022.2:n.623C>G | ||
| XR_934023.2:n.623C>G | ||
| NM_000018.4:c.564C>G MANE Select | NP_000009.1:p.Gly188= | |
| NM_001033859.3:c.498C>G | NP_001029031.1:p.Gly166= | |
| NM_001270447.2:c.633C>G | NP_001257376.1:p.Gly211= | |
| NM_001270448.2:c.336C>G | NP_001257377.1:p.Gly112= |