Linked Data
ClinVar Variation Id:
2038167
ClinVar RCV Id:
RCV002890517
dbSNP Id:
rs1658548052
gnomAD v4:
1-169485756-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169485756G>C , CM000663.2:g.169485756G>C | GRCh38 |
| NC_000001.10:g.169454994G>C , CM000663.1:g.169454994G>C | GRCh37 |
| NC_000001.9:g.167721618G>C | NCBI36 |
| NG_008255.1:g.5215C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236137.10:c.11C>G MANE Select | ENSP00000236137.5:p.Pro4Arg | |
| ENST00000646596.1:c.11C>G | ENSP00000494404.1:p.Pro4Arg | |
| ENST00000236137.9:c.11C>G | ENSP00000236137.5:p.Pro4Arg | |
| ENST00000367804.4:c.11C>G | ENSP00000356778.3:p.Pro4Arg | |
| NM_006996.2:c.11C>G | NP_008927.1:p.Pro4Arg | |
| XM_011509076.1:c.12+297C>G | XP_011507378.1:n.12+297C>G | |
| XM_011509077.1:c.11C>G | XP_011507379.1:p.Pro4Arg | |
| NM_001319667.1:c.11C>G | NP_001306596.1:p.Pro4Arg | |
| NM_006996.3:c.11C>G MANE Select | NP_008927.1:p.Pro4Arg |