Linked Data
dbSNP Id:
rs751912227
gnomAD v3:
22-37710476-G-C
gnomAD v4:
22-37710476-G-C
COSMIC:
COSM1034034
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37710476G>C , CM000684.2:g.37710476G>C | GRCh38 |
| NC_000022.10:g.38106483G>C , CM000684.1:g.38106483G>C | GRCh37 |
| NC_000022.9:g.36436429G>C | NCBI36 |
| NG_012857.1:g.18489G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.164G>C MANE Select | ENSP00000496394.1:p.Arg55Pro | |
| ENST00000344404.10:c.164G>C | ENSP00000340312.6:p.Arg55Pro | |
| ENST00000406386.7:c.164G>C | ENSP00000384312.3:p.Arg55Pro | |
| ENST00000455236.4:c.1121G>C | ENSP00000477208.1:n.1121G>C | |
| ENST00000492485.5:n.300G>C | ||
| NM_001039141.2:c.164G>C | NP_001034230.1:p.Arg55Pro | |
| NM_001039141.3:c.164G>C MANE Select | NP_001034230.1:p.Arg55Pro |