Linked Data
dbSNP Id:
rs767315450
ExAC:
4:102839291 A / G
gnomAD v2:
4-102839291-A-G
gnomAD v3:
4-101918134-A-G
gnomAD v4:
4-101918134-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101918134A>G , CM000666.2:g.101918134A>G | GRCh38 |
| NC_000004.11:g.102839291A>G , CM000666.1:g.102839291A>G | GRCh37 |
| NC_000004.10:g.103058314A>G | NCBI36 |
| NG_015824.1:g.132528A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322953.9:c.1151A>G MANE Select | ENSP00000320509.4:p.His384Arg | |
| ENST00000322953.8:c.1151A>G | ENSP00000320509.4:p.His384Arg | |
| ENST00000428908.5:c.752A>G | ENSP00000412748.1:p.His251Arg | |
| ENST00000444316.2:c.1061A>G | ENSP00000388817.2:p.His354Arg | |
| ENST00000504592.5:c.1106A>G | ENSP00000421443.1:p.His369Arg | |
| ENST00000508653.5:c.752A>G | ENSP00000422314.1:p.His251Arg | |
| NM_001083907.2:c.1061A>G | NP_001077376.2:p.His354Arg | |
| NM_001127507.2:c.752A>G | NP_001120979.2:p.His251Arg | |
| NM_017935.4:c.1151A>G | NP_060405.4:p.His384Arg | |
| XM_017008337.2:c.1061A>G | XP_016863826.1:p.His354Arg | |
| NM_017935.5:c.1151A>G MANE Select | NP_060405.5:p.His384Arg | |
| NM_001083907.3:c.1061A>G | NP_001077376.3:p.His354Arg | |
| NM_001127507.3:c.752A>G | NP_001120979.3:p.His251Arg |