Linked Data
dbSNP Id:
rs376192371
gnomAD v2:
22-38109243-C-G
gnomAD v3:
22-37713236-C-G
gnomAD v4:
22-37713236-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37713236C>G , CM000684.2:g.37713236C>G | GRCh38 |
| NC_000022.10:g.38109243C>G , CM000684.1:g.38109243C>G | GRCh37 |
| NC_000022.9:g.36439189C>G | NCBI36 |
| NG_012857.1:g.21249C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.281C>G MANE Select | ENSP00000496394.1:p.Pro94Arg | |
| ENST00000344404.10:c.255-2527C>G | ENSP00000340312.6:n.255-2527C>G | |
| ENST00000406386.7:c.281C>G | ENSP00000384312.3:p.Pro94Arg | |
| ENST00000455236.4:c.1238C>G | ENSP00000477208.1:n.1238C>G | |
| ENST00000492485.5:n.391-2527C>G | ||
| NM_001039141.2:c.281C>G | NP_001034230.1:p.Pro94Arg | |
| NM_001039141.3:c.281C>G MANE Select | NP_001034230.1:p.Pro94Arg |