Linked Data
dbSNP Id:
rs774352491
ExAC:
19:12758375 T / C
gnomAD v2:
19-12758375-T-C
gnomAD v3:
19-12647561-T-C
gnomAD v4:
19-12647561-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647561T>C , CM000681.2:g.12647561T>C | GRCh38 |
| NC_000019.9:g.12758375T>C , CM000681.1:g.12758375T>C | GRCh37 |
| NC_000019.8:g.12619375T>C | NCBI36 |
| NG_008318.1:g.24217A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2702A>G MANE Select | ENSP00000395473.2:p.His901Arg | |
| ENST00000221363.8:c.2699A>G | ENSP00000221363.4:p.His900Arg | |
| ENST00000456935.6:c.2702A>G | ENSP00000395473.2:p.His901Arg | |
| ENST00000466794.5:n.3292A>G | ||
| ENST00000469423.1:n.24A>G | ||
| ENST00000493218.5:n.113A>G | ||
| ENST00000597692.1:c.261A>G | ||
| NM_000528.3:c.2702A>G | NP_000519.2:p.His901Arg | |
| NM_001173498.1:c.2699A>G | NP_001166969.1:p.His900Arg | |
| XM_005259913.1:c.2705A>G | XP_005259970.1:p.His902Arg | |
| XM_011528017.1:c.1601A>G | XP_011526319.1:p.His534Arg | |
| XM_005259913.2:c.2705A>G | XP_005259970.1:p.His902Arg | |
| XM_024451518.1:c.1601A>G | XP_024307286.1:p.His534Arg | |
| NM_000528.4:c.2702A>G MANE Select | NP_000519.2:p.His901Arg | |
| NM_001173498.2:c.2699A>G | NP_001166969.1:p.His900Arg |