Linked Data
dbSNP Id:
rs746344781
ExAC:
19:39076783 A / G
gnomAD v2:
19-39076783-A-G
gnomAD v4:
19-38586143-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38586143A>G , CM000681.2:g.38586143A>G | GRCh38 |
| NC_000019.9:g.39076783A>G , CM000681.1:g.39076783A>G | GRCh37 |
| NC_000019.8:g.43768623A>G | NCBI36 |
| NG_008866.1:g.157444A>G , LRG_766:g.157444A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1857A>G | ||
| ENST00000688602.1:c.3254A>G | ||
| ENST00000689936.1:c.3226A>G | ||
| ENST00000692547.1:n.314A>G | ||
| ENST00000359596.8:c.14921A>G MANE Select | ENSP00000352608.2:p.His4974Arg | |
| ENST00000355481.8:c.14906A>G | ENSP00000347667.3:p.His4969Arg | |
| ENST00000359596.7:c.14921A>G | ENSP00000352608.2:p.His4974Arg | |
| ENST00000360985.7:c.14903A>G | ENSP00000354254.4:p.His4968Arg | |
| NM_000540.2:c.14921A>G , LRG_766t1:c.14921A>G | NP_000531.2:p.His4974Arg | |
| NM_001042723.1:c.14906A>G | NP_001036188.1:p.His4969Arg | |
| XM_006723317.1:c.14903A>G | XP_006723380.1:p.His4968Arg | |
| XM_006723319.1:c.14888A>G | XP_006723382.1:p.His4963Arg | |
| XM_011527204.1:c.14918A>G | XP_011525506.1:p.His4973Arg | |
| XM_011527205.1:c.14834A>G | XP_011525507.1:p.His4945Arg | |
| XM_006723317.2:c.14903A>G | XP_006723380.1:p.His4968Arg | |
| XM_006723319.2:c.14888A>G | XP_006723382.1:p.His4963Arg | |
| XM_011527205.2:c.14834A>G | XP_011525507.1:p.His4945Arg | |
| NM_000540.3:c.14921A>G MANE Select | NP_000531.2:p.His4974Arg | |
| NM_001042723.2:c.14906A>G | NP_001036188.1:p.His4969Arg |