Linked Data
ClinVar Variation Id:
55999
dbSNP Id:
rs386833481
ExAC:
7:107431671 G / C
gnomAD v2:
7-107431671-G-C
gnomAD v4:
7-107791226-G-C
PubMed:
PMID:9554749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107791226G>C , CM000669.2:g.107791226G>C | GRCh38 |
| NC_000007.13:g.107431671G>C , CM000669.1:g.107431671G>C | GRCh37 |
| NC_000007.12:g.107218907G>C | NCBI36 |
| NG_008046.1:g.17008C>G , LRG_683:g.17008C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.392C>G MANE Select | ENSP00000345873.5:p.Pro131Arg | |
| ENST00000340010.9:c.392C>G | ENSP00000345873.5:p.Pro131Arg | |
| ENST00000379083.7:c.*183C>G | ENSP00000368375.3:n.*183C>G | |
| NM_000111.2:c.392C>G , LRG_683t1:c.392C>G | NP_000102.1:p.Pro131Arg | |
| XM_011515867.1:c.392C>G | XP_011514169.1:p.Pro131Arg | |
| NM_000111.3:c.392C>G MANE Select | NP_000102.1:p.Pro131Arg |