Linked Data
ClinVar Variation Id:
1123643
ClinVar RCV Id:
RCV001454776
dbSNP Id:
rs200866361
gnomAD v2:
7-92147564-C-A
gnomAD v3:
7-92518250-C-A
gnomAD v4:
7-92518250-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518250C>A , CM000669.2:g.92518250C>A | GRCh38 |
| NC_000007.13:g.92147564C>A , CM000669.1:g.92147564C>A | GRCh37 |
| NC_000007.12:g.91985500C>A | NCBI36 |
| NG_008341.1:g.15282G>T | |
| NG_008341.2:g.15282G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.363G>T MANE Select | ENSP00000248633.4:p.Leu121= | |
| ENST00000248633.8:c.363G>T | ENSP00000248633.4:p.Leu121= | |
| ENST00000428214.5:c.363G>T | ENSP00000394413.1:p.Leu121= | |
| ENST00000438045.5:c.273+3852G>T | ENSP00000410438.1:n.273+3852G>T | |
| ENST00000484913.5:n.402G>T | ||
| NM_000466.2:c.363G>T | NP_000457.1:p.Leu121= | |
| NM_001282677.1:c.363G>T | NP_001269606.1:p.Leu121= | |
| NM_001282678.1:c.-262G>T | NP_001269607.1:n.-262G>T | |
| XR_242246.3:n.459G>T | ||
| XR_242246.5:n.410G>T | ||
| NM_000466.3:c.363G>T MANE Select | NP_000457.1:p.Leu121= | |
| NM_001282677.2:c.363G>T | NP_001269606.1:p.Leu121= | |
| NM_001282678.2:c.-262G>T | NP_001269607.1:n.-262G>T |