Linked Data
ClinVar Variation Id:
932788
ClinVar RCV Id:
RCV001200732
dbSNP Id:
rs763630981
ExAC:
17:7124956 G / C
gnomAD v2:
17-7124956-G-C
gnomAD v3:
17-7221637-G-C
gnomAD v4:
17-7221637-G-C
ERepo:
CA8337761/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221637G>C , CM000679.2:g.7221637G>C | GRCh38 |
| NC_000017.10:g.7124956G>C , CM000679.1:g.7124956G>C | GRCh37 |
| NC_000017.9:g.7065680G>C | NCBI36 |
| NG_007975.1:g.6804G>C | |
| NG_008391.2:g.3414C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.577G>C MANE Select | ENSP00000349297.5:p.Gly193Arg | |
| ENST00000322910.9:c.*532G>C | ENSP00000325395.5:n.*532G>C | |
| ENST00000350303.9:c.511G>C | ENSP00000344152.5:p.Gly171Arg | |
| ENST00000356839.9:c.577G>C | ENSP00000349297.5:p.Gly193Arg | |
| ENST00000543245.6:c.646G>C | ENSP00000438689.2:p.Gly216Arg | |
| ENST00000577191.5:n.654G>C | ||
| ENST00000577433.5:n.785G>C | ||
| ENST00000577857.5:n.393G>C | ||
| ENST00000579286.5:n.758G>C | ||
| ENST00000579886.2:c.415G>C | ENSP00000463246.1:p.Gly139Arg | |
| ENST00000580365.1:n.308G>C | ||
| ENST00000581378.5:c.295G>C | ||
| ENST00000581562.5:n.525-315G>C | ||
| ENST00000583312.5:c.577G>C | ENSP00000467920.1:p.Gly193Arg | |
| ENST00000583760.1:n.359G>C | ||
| NM_000018.3:c.577G>C | NP_000009.1:p.Gly193Arg | |
| NM_001033859.2:c.511G>C | NP_001029031.1:p.Gly171Arg | |
| NM_001270447.1:c.646G>C | NP_001257376.1:p.Gly216Arg | |
| NM_001270448.1:c.349G>C | NP_001257377.1:p.Gly117Arg | |
| XM_006721516.2:c.577G>C | XP_006721579.2:p.Gly193Arg | |
| XM_011523829.1:c.577G>C | XP_011522131.1:p.Gly193Arg | |
| XM_011523830.1:c.577G>C | XP_011522132.1:p.Gly193Arg | |
| XR_934021.1:n.684G>C | ||
| XR_934022.1:n.684G>C | ||
| XR_934023.1:n.684G>C | ||
| XM_006721516.3:c.577G>C | XP_006721579.2:p.Gly193Arg | |
| XM_011523829.2:c.577G>C | XP_011522131.1:p.Gly193Arg | |
| XM_011523830.2:c.577G>C | XP_011522132.1:p.Gly193Arg | |
| XM_024450741.1:c.577G>C | XP_024306509.1:p.Gly193Arg | |
| XR_934021.2:n.636G>C | ||
| XR_934022.2:n.636G>C | ||
| XR_934023.2:n.636G>C | ||
| NM_000018.4:c.577G>C MANE Select | NP_000009.1:p.Gly193Arg | |
| NM_001033859.3:c.511G>C | NP_001029031.1:p.Gly171Arg | |
| NM_001270447.2:c.646G>C | NP_001257376.1:p.Gly216Arg | |
| NM_001270448.2:c.349G>C | NP_001257377.1:p.Gly117Arg |