Linked Data
dbSNP Id:
rs773302308
ExAC:
7:92151420 C / T
gnomAD v2:
7-92151420-C-T
gnomAD v4:
7-92522106-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92522106C>T , CM000669.2:g.92522106C>T | GRCh38 |
| NC_000007.13:g.92151420C>T , CM000669.1:g.92151420C>T | GRCh37 |
| NC_000007.12:g.91989356C>T | NCBI36 |
| NG_008341.1:g.11426G>A | |
| NG_008341.2:g.11426G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.269G>A MANE Select | ENSP00000248633.4:p.Gly90Glu | |
| ENST00000248633.8:c.269G>A | ENSP00000248633.4:p.Gly90Glu | |
| ENST00000428214.5:c.269G>A | ENSP00000394413.1:p.Gly90Glu | |
| ENST00000438045.5:c.269G>A | ENSP00000410438.1:p.Gly90Glu | |
| ENST00000484913.5:n.273G>A | ||
| NM_000466.2:c.269G>A | NP_000457.1:p.Gly90Glu | |
| NM_001282677.1:c.269G>A | NP_001269606.1:p.Gly90Glu | |
| NM_001282678.1:c.-391G>A | NP_001269607.1:n.-391G>A | |
| XR_242246.3:n.365G>A | ||
| XR_242246.5:n.316G>A | ||
| NM_000466.3:c.269G>A MANE Select | NP_000457.1:p.Gly90Glu | |
| NM_001282677.2:c.269G>A | NP_001269606.1:p.Gly90Glu | |
| NM_001282678.2:c.-391G>A | NP_001269607.1:n.-391G>A |