Linked Data
dbSNP Id:
rs748170273
ExAC:
22:19882684 T / C
gnomAD v2:
22-19882684-T-C
gnomAD v3:
22-19895161-T-C
gnomAD v4:
22-19895161-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19895161T>C , CM000684.2:g.19895161T>C | GRCh38 |
| NC_000022.10:g.19882684T>C , CM000684.1:g.19882684T>C | GRCh37 |
| NC_000022.9:g.18262684T>C | NCBI36 |
| NG_011835.1:g.51676A>G , LRG_417:g.51676A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.949+246A>G MANE Select | ENSP00000383365.1:n.949+246A>G | |
| ENST00000334363.14:c.989A>G | ENSP00000334451.9:p.His330Arg | |
| ENST00000400518.5:c.859+246A>G | ENSP00000383362.1:n.859+246A>G | |
| ENST00000400519.6:c.946+246A>G | ENSP00000383363.1:n.946+246A>G | |
| ENST00000400521.6:c.949+246A>G | ENSP00000383365.1:n.949+246A>G | |
| ENST00000400525.6:c.880+246A>G | ENSP00000383369.3:n.880+246A>G | |
| ENST00000474308.5:c.892+246A>G | ENSP00000485665.1:n.892+246A>G | |
| ENST00000475995.3:c.606A>G | ||
| ENST00000491939.6:c.893A>G | ENSP00000485543.1:p.His298Arg | |
| ENST00000494454.5:n.1023+246A>G | ||
| ENST00000542719.6:c.661+246A>G | ENSP00000485128.2:n.661+246A>G | |
| ENST00000634537.1:c.178+246A>G | ENSP00000489208.1:n.178+246A>G | |
| ENST00000635155.1:n.535+246A>G | ||
| NM_001282512.1:c.989A>G | NP_001269441.1:p.His330Arg | |
| NM_006440.4:c.949+246A>G | NP_006431.2:n.949+246A>G | |
| NM_001282512.2:c.989A>G | NP_001269441.1:p.His330Arg | |
| NM_001352300.1:c.946+246A>G | NP_001339229.1:n.946+246A>G | |
| NM_001352301.1:c.859+246A>G | NP_001339230.1:n.859+246A>G | |
| NM_001352302.1:c.661+246A>G | NP_001339231.1:n.661+246A>G | |
| NM_001352303.1:c.893A>G | NP_001339232.1:p.His298Arg | |
| NR_147957.1:n.1081+246A>G | ||
| NM_006440.5:c.949+246A>G MANE Select | NP_006431.2:n.949+246A>G | |
| NM_001282512.3:c.989A>G | NP_001269441.1:p.His330Arg | |
| NM_001352300.2:c.946+246A>G | NP_001339229.1:n.946+246A>G | |
| NR_147957.2:n.907+246A>G | ||
| NM_001352301.2:c.859+246A>G | NP_001339230.1:n.859+246A>G | |
| NM_001352302.2:c.661+246A>G | NP_001339231.1:n.661+246A>G | |
| NM_001352303.2:c.893A>G | NP_001339232.1:p.His298Arg |