Linked Data
ClinVar Variation Id:
2136398
ClinVar RCV Id:
RCV003037159
dbSNP Id:
rs1222736128
gnomAD v3:
19-1401358-G-C
gnomAD v4:
19-1401358-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401358G>C , CM000681.2:g.1401358G>C | GRCh38 |
| NC_000019.9:g.1401357G>C , CM000681.1:g.1401357G>C | GRCh37 |
| NC_000019.8:g.1352357G>C | NCBI36 |
| NG_009785.1:g.5196C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.119C>G MANE Select | ENSP00000252288.1:p.Pro40Arg | |
| ENST00000447102.8:c.119C>G | ENSP00000403536.2:p.Pro40Arg | |
| ENST00000640762.1:c.112+7C>G | ENSP00000492031.1:n.112+7C>G | |
| ENST00000252288.6:c.119C>G | ENSP00000252288.1:p.Pro40Arg | |
| ENST00000447102.7:c.119C>G | ENSP00000403536.2:p.Pro40Arg | |
| NM_000156.5:c.119C>G | NP_000147.1:p.Pro40Arg | |
| NM_138924.2:c.119C>G | NP_620279.1:p.Pro40Arg | |
| NM_000156.6:c.119C>G MANE Select | NP_000147.1:p.Pro40Arg | |
| NM_138924.3:c.119C>G | NP_620279.1:p.Pro40Arg |