Linked Data
ClinVar Variation Id:
2189993
ClinVar RCV Id:
RCV002611980
dbSNP Id:
rs544498759
ExAC:
19:12774609 T / C
gnomAD v2:
19-12774609-T-C
gnomAD v3:
19-12663795-T-C
gnomAD v4:
19-12663795-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12663795T>C , CM000681.2:g.12663795T>C | GRCh38 |
| NC_000019.9:g.12774609T>C , CM000681.1:g.12774609T>C | GRCh37 |
| NC_000019.8:g.12635609T>C | NCBI36 |
| NG_008318.1:g.7983A>G | |
| NG_015814.1:g.1992T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.671A>G MANE Select | ENSP00000395473.2:p.Gln224Arg | |
| ENST00000221363.8:c.671A>G | ENSP00000221363.4:p.Gln224Arg | |
| ENST00000456935.6:c.671A>G | ENSP00000395473.2:p.Gln224Arg | |
| ENST00000466794.5:n.653A>G | ||
| ENST00000486847.2:c.374A>G | ENSP00000470174.1:p.Gln125Arg | |
| NM_000528.3:c.671A>G | NP_000519.2:p.Gln224Arg | |
| NM_001173498.1:c.671A>G | NP_001166969.1:p.Gln224Arg | |
| XM_005259913.1:c.671A>G | XP_005259970.1:p.Gln224Arg | |
| XM_005259913.2:c.671A>G | XP_005259970.1:p.Gln224Arg | |
| XM_024451518.1:c.-348A>G | XP_024307286.1:n.-348A>G | |
| NM_000528.4:c.671A>G MANE Select | NP_000519.2:p.Gln224Arg | |
| NM_001173498.2:c.671A>G | NP_001166969.1:p.Gln224Arg |