Linked Data
ClinVar Variation Id:
292906
ClinVar RCV Id:
RCV000266799
dbSNP Id:
rs533967597
ExAC:
1:15766823 C / T
gnomAD v2:
1-15766823-C-T
gnomAD v3:
1-15440327-C-T
gnomAD v4:
1-15440327-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15440327C>T , CM000663.2:g.15440327C>T | GRCh38 |
| NC_000001.10:g.15766823C>T , CM000663.1:g.15766823C>T | GRCh37 |
| NC_000001.9:g.15639410C>T | NCBI36 |
| NG_009253.1:g.6886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.68C>T MANE Select | ENSP00000365116.4:p.Pro23Leu | |
| ENST00000375943.6:c.40+1823C>T | ENSP00000365110.2:n.40+1823C>T | |
| ENST00000375949.4:c.68C>T | ENSP00000365116.4:p.Pro23Leu | |
| ENST00000476813.5:n.52+1823C>T | ||
| NM_007272.2:c.68C>T | NP_009203.2:p.Pro23Leu | |
| XM_011540550.1:c.68C>T | XP_011538852.1:p.Pro23Leu | |
| NM_007272.3:c.68C>T MANE Select | NP_009203.2:p.Pro23Leu |