Linked Data
ClinVar Variation Id:
1141284
ClinVar RCV Id:
RCV001478690
dbSNP Id:
rs759993457
ExAC:
7:92151466 C / T
gnomAD v2:
7-92151466-C-T
gnomAD v3:
7-92522152-C-T
gnomAD v4:
7-92522152-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92522152C>T , CM000669.2:g.92522152C>T | GRCh38 |
| NC_000007.13:g.92151466C>T , CM000669.1:g.92151466C>T | GRCh37 |
| NC_000007.12:g.91989402C>T | NCBI36 |
| NG_008341.1:g.11380G>A | |
| NG_008341.2:g.11380G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.223G>A MANE Select | ENSP00000248633.4:p.Glu75Lys | |
| ENST00000248633.8:c.223G>A | ENSP00000248633.4:p.Glu75Lys | |
| ENST00000428214.5:c.223G>A | ENSP00000394413.1:p.Glu75Lys | |
| ENST00000438045.5:c.223G>A | ENSP00000410438.1:p.Glu75Lys | |
| ENST00000484913.5:n.227G>A | ||
| NM_000466.2:c.223G>A | NP_000457.1:p.Glu75Lys | |
| NM_001282677.1:c.223G>A | NP_001269606.1:p.Glu75Lys | |
| NM_001282678.1:c.-437G>A | NP_001269607.1:n.-437G>A | |
| XR_242246.3:n.319G>A | ||
| XR_242246.5:n.270G>A | ||
| NM_000466.3:c.223G>A MANE Select | NP_000457.1:p.Glu75Lys | |
| NM_001282677.2:c.223G>A | NP_001269606.1:p.Glu75Lys | |
| NM_001282678.2:c.-437G>A | NP_001269607.1:n.-437G>A |