Linked Data
ClinVar Variation Id:
1985426
ClinVar RCV Id:
RCV002780739
dbSNP Id:
rs1253386014
gnomAD v2:
7-92147548-C-T
gnomAD v4:
7-92518234-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518234C>T , CM000669.2:g.92518234C>T | GRCh38 |
| NC_000007.13:g.92147548C>T , CM000669.1:g.92147548C>T | GRCh37 |
| NC_000007.12:g.91985484C>T | NCBI36 |
| NG_008341.1:g.15298G>A | |
| NG_008341.2:g.15298G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.379G>A MANE Select | ENSP00000248633.4:p.Glu127Lys | |
| ENST00000248633.8:c.379G>A | ENSP00000248633.4:p.Glu127Lys | |
| ENST00000428214.5:c.379G>A | ENSP00000394413.1:p.Glu127Lys | |
| ENST00000438045.5:c.273+3868G>A | ENSP00000410438.1:n.273+3868G>A | |
| ENST00000484913.5:n.418G>A | ||
| NM_000466.2:c.379G>A | NP_000457.1:p.Glu127Lys | |
| NM_001282677.1:c.379G>A | NP_001269606.1:p.Glu127Lys | |
| NM_001282678.1:c.-246G>A | NP_001269607.1:n.-246G>A | |
| XR_242246.3:n.475G>A | ||
| XR_242246.5:n.426G>A | ||
| NM_000466.3:c.379G>A MANE Select | NP_000457.1:p.Glu127Lys | |
| NM_001282677.2:c.379G>A | NP_001269606.1:p.Glu127Lys | |
| NM_001282678.2:c.-246G>A | NP_001269607.1:n.-246G>A |