Linked Data
ClinVar Variation Id:
1143833
ClinVar RCV Id:
RCV001482122
dbSNP Id:
rs769221282
ExAC:
7:92134068 C / T
gnomAD v2:
7-92134068-C-T
gnomAD v4:
7-92504754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504754C>T , CM000669.2:g.92504754C>T | GRCh38 |
| NC_000007.13:g.92134068C>T , CM000669.1:g.92134068C>T | GRCh37 |
| NC_000007.12:g.91972004C>T | NCBI36 |
| NG_008341.1:g.28778G>A | |
| NG_008341.2:g.28778G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2049G>A MANE Select | ENSP00000248633.4:p.Val683= | |
| ENST00000248633.8:c.2049G>A | ENSP00000248633.4:p.Val683= | |
| ENST00000428214.5:c.1900+1494G>A | ENSP00000394413.1:n.1900+1494G>A | |
| ENST00000438045.5:c.1083G>A | ENSP00000410438.1:p.Val361= | |
| ENST00000484913.5:n.2088G>A | ||
| ENST00000496420.5:n.1725G>A | ||
| NM_000466.2:c.2049G>A | NP_000457.1:p.Val683= | |
| NM_001282677.1:c.1900+1494G>A | NP_001269606.1:n.1900+1494G>A | |
| NM_001282678.1:c.1425G>A | NP_001269607.1:p.Val475= | |
| XM_005250433.3:c.300G>A | XP_005250490.1:p.Val100= | |
| XR_242246.3:n.2145G>A | ||
| XM_017012319.2:c.300G>A | XP_016867808.1:p.Val100= | |
| XR_001744808.2:n.1076G>A | ||
| XR_242246.5:n.2096G>A | ||
| NM_000466.3:c.2049G>A MANE Select | NP_000457.1:p.Val683= | |
| NM_001282677.2:c.1900+1494G>A | NP_001269606.1:n.1900+1494G>A | |
| NM_001282678.2:c.1425G>A | NP_001269607.1:p.Val475= |