Linked Data
ClinVar Variation Id:
2538983
ClinVar RCV Id:
RCV003291894
dbSNP Id:
rs751774033
ExAC:
19:12769114 T / C
gnomAD v2:
19-12769114-T-C
gnomAD v3:
19-12658300-T-C
gnomAD v4:
19-12658300-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658300T>C , CM000681.2:g.12658300T>C | GRCh38 |
| NC_000019.9:g.12769114T>C , CM000681.1:g.12769114T>C | GRCh37 |
| NC_000019.8:g.12630114T>C | NCBI36 |
| NG_008318.1:g.13478A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1154A>G MANE Select | ENSP00000395473.2:p.His385Arg | |
| ENST00000221363.8:c.1151A>G | ENSP00000221363.4:p.His384Arg | |
| ENST00000456935.6:c.1154A>G | ENSP00000395473.2:p.His385Arg | |
| ENST00000465830.1:n.318A>G | ||
| ENST00000466794.5:n.1053A>G | ||
| ENST00000495617.1:n.280+431A>G | ||
| NM_000528.3:c.1154A>G | NP_000519.2:p.His385Arg | |
| NM_001173498.1:c.1151A>G | NP_001166969.1:p.His384Arg | |
| XM_005259913.1:c.1157A>G | XP_005259970.1:p.His386Arg | |
| XM_011528017.1:c.53A>G | XP_011526319.1:p.His18Arg | |
| XM_005259913.2:c.1157A>G | XP_005259970.1:p.His386Arg | |
| XM_024451518.1:c.53A>G | XP_024307286.1:p.His18Arg | |
| NM_000528.4:c.1154A>G MANE Select | NP_000519.2:p.His385Arg | |
| NM_001173498.2:c.1151A>G | NP_001166969.1:p.His384Arg |