Linked Data
ClinVar Variation Id:
292915
ClinVar RCV Id:
RCV000396990
dbSNP Id:
rs200412314
ExAC:
1:15772188 C / T
gnomAD v2:
1-15772188-C-T
gnomAD v3:
1-15445693-C-T
gnomAD v4:
1-15445693-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445693C>T , CM000663.2:g.15445693C>T | GRCh38 |
| NC_000001.10:g.15772188C>T , CM000663.1:g.15772188C>T | GRCh37 |
| NC_000001.9:g.15644775C>T | NCBI36 |
| NG_009253.1:g.12251C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.736C>T MANE Select | ENSP00000365116.4:p.Arg246Cys | |
| ENST00000375943.6:c.*190C>T | ENSP00000365110.2:n.*190C>T | |
| ENST00000375949.4:c.736C>T | ENSP00000365116.4:p.Arg246Cys | |
| ENST00000483406.1:n.500C>T | ||
| NM_007272.2:c.736C>T | NP_009203.2:p.Arg246Cys | |
| XM_011540550.1:c.590C>T | XP_011538852.1:p.Pro197Leu | |
| NM_007272.3:c.736C>T MANE Select | NP_009203.2:p.Arg246Cys |