Linked Data
ClinVar Variation Id:
994090
ClinVar RCV Id:
RCV001286817
dbSNP Id:
rs777608312
ExAC:
1:15772130 C / T
gnomAD v2:
1-15772130-C-T
gnomAD v3:
1-15445635-C-T
gnomAD v4:
1-15445635-C-T
COSMIC:
COSM5968891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445635C>T , CM000663.2:g.15445635C>T | GRCh38 |
| NC_000001.10:g.15772130C>T , CM000663.1:g.15772130C>T | GRCh37 |
| NC_000001.9:g.15644717C>T | NCBI36 |
| NG_009253.1:g.12193C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.678C>T MANE Select | ENSP00000365116.4:p.Asn226= | |
| ENST00000375943.6:c.*132C>T | ENSP00000365110.2:n.*132C>T | |
| ENST00000375949.4:c.678C>T | ENSP00000365116.4:p.Asn226= | |
| ENST00000483406.1:n.442C>T | ||
| NM_007272.2:c.678C>T | NP_009203.2:p.Asn226= | |
| XM_011540550.1:c.532C>T | XP_011538852.1:p.Arg178Trp | |
| NM_007272.3:c.678C>T MANE Select | NP_009203.2:p.Asn226= |