Linked Data
dbSNP Id:
rs767271473
ExAC:
17:74465793 A / G
gnomAD v2:
17-74465793-A-G
gnomAD v4:
17-76469711-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76469711A>G , CM000679.2:g.76469711A>G | GRCh38 |
| NC_000017.10:g.74465793A>G , CM000679.1:g.74465793A>G | GRCh37 |
| NC_000017.9:g.71977388A>G | NCBI36 |
| NG_015976.1:g.21361A>G | |
| NG_032852.1:g.36717T>C , LRG_532:g.36717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392492.8:c.365A>G MANE Select | ENSP00000376282.2:p.His122Arg | |
| ENST00000250615.7:c.500A>G | ENSP00000250615.2:p.His167Arg | |
| ENST00000392492.7:c.365A>G | ENSP00000376282.2:p.His122Arg | |
| ENST00000587798.1:c.*142A>G | ENSP00000468239.1:n.*142A>G | |
| NM_001088.2:c.365A>G | NP_001079.1:p.His122Arg | |
| NM_001166579.1:c.500A>G | NP_001160051.1:p.His167Arg | |
| NR_110548.1:n.676A>G | ||
| XM_011524415.1:c.365A>G | XP_011522717.1:p.His122Arg | |
| XM_011524416.1:c.572A>G | XP_011522718.1:p.His191Arg | |
| XM_011524417.1:c.572A>G | XP_011522719.1:p.His191Arg | |
| XM_011524418.1:c.572A>G | XP_011522720.1:p.His191Arg | |
| XM_011524419.1:c.572A>G | XP_011522721.1:p.His191Arg | |
| XM_011524420.1:c.572A>G | XP_011522722.1:p.His191Arg | |
| XM_011524421.1:c.572A>G | XP_011522723.1:p.His191Arg | |
| XM_011524422.1:c.455A>G | XP_011522724.1:p.His152Arg | |
| XM_011524423.1:c.365A>G | XP_011522725.1:p.His122Arg | |
| XM_017024259.1:c.479A>G | XP_016879748.1:p.His160Arg | |
| NM_001088.3:c.365A>G MANE Select | NP_001079.1:p.His122Arg | |
| NR_110548.2:n.621A>G | ||
| NM_001166579.2:c.500A>G | NP_001160051.1:p.His167Arg |