Linked Data
ClinVar Variation Id:
1957599
ClinVar RCV Id:
RCV002690748
dbSNP Id:
rs745617798
ExAC:
1:27427084 G / A
gnomAD v2:
1-27427084-G-A
gnomAD v3:
1-27100593-G-A
gnomAD v4:
1-27100593-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27100593G>A , CM000663.2:g.27100593G>A | GRCh38 |
| NC_000001.10:g.27427084G>A , CM000663.1:g.27427084G>A | GRCh37 |
| NC_000001.9:g.27299671G>A | NCBI36 |
| NG_030006.1:g.59368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263980.8:c.2162C>T MANE Select | ENSP00000263980.3:p.Pro721Leu | |
| ENST00000263980.7:c.2162C>T | ENSP00000263980.3:p.Pro721Leu | |
| ENST00000374089.5:n.1387C>T | ||
| ENST00000447808.1:n.639C>T | ||
| NM_003047.4:c.2162C>T | NP_003038.2:p.Pro721Leu | |
| NR_046474.1:n.2497C>T | ||
| XM_011542021.1:c.1832C>T | XP_011540323.1:p.Pro611Leu | |
| XM_011542021.3:c.1832C>T | XP_011540323.1:p.Pro611Leu | |
| NM_003047.5:c.2162C>T MANE Select | NP_003038.2:p.Pro721Leu | |
| NR_046474.2:n.2492C>T |