Linked Data
dbSNP Id:
rs773406474
ExAC:
22:20127103 A / G
gnomAD v2:
22-20127103-A-G
gnomAD v4:
22-20139580-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20139580A>G , CM000684.2:g.20139580A>G | GRCh38 |
| NC_000022.10:g.20127103A>G , CM000684.1:g.20127103A>G | GRCh37 |
| NC_000022.9:g.18507103A>G | NCBI36 |
| NG_021420.1:g.12740A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334554.12:c.329A>G MANE Select | ENSP00000334490.7:p.His110Arg | |
| ENST00000320602.11:c.329A>G | ENSP00000317804.7:p.His110Arg | |
| ENST00000334554.11:c.329A>G | ENSP00000334490.7:p.His110Arg | |
| ENST00000405930.3:c.329A>G | ENSP00000384716.3:p.His110Arg | |
| ENST00000436518.5:c.296A>G | ENSP00000412807.1:p.His99Arg | |
| ENST00000468112.5:n.58-1037A>G | ||
| NM_001185024.1:c.329A>G | NP_001171953.1:p.His110Arg | |
| NM_013373.3:c.329A>G | NP_037505.1:p.His110Arg | |
| XM_006724239.2:c.329A>G | XP_006724302.1:p.His110Arg | |
| NM_001185024.2:c.329A>G | NP_001171953.1:p.His110Arg | |
| NM_013373.4:c.329A>G MANE Select | NP_037505.1:p.His110Arg |