Linked Data
dbSNP Id:
rs777581476
ExAC:
7:92148348 A / T
gnomAD v2:
7-92148348-A-T
gnomAD v4:
7-92519034-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92519034A>T , CM000669.2:g.92519034A>T | GRCh38 |
| NC_000007.13:g.92148348A>T , CM000669.1:g.92148348A>T | GRCh37 |
| NC_000007.12:g.91986284A>T | NCBI36 |
| NG_008341.1:g.14498T>A | |
| NG_008341.2:g.14498T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.318T>A MANE Select | ENSP00000248633.4:p.Val106= | |
| ENST00000248633.8:c.318T>A | ENSP00000248633.4:p.Val106= | |
| ENST00000428214.5:c.318T>A | ENSP00000394413.1:p.Val106= | |
| ENST00000438045.5:c.273+3068T>A | ENSP00000410438.1:n.273+3068T>A | |
| ENST00000484913.5:n.322T>A | ||
| NM_000466.2:c.318T>A | NP_000457.1:p.Val106= | |
| NM_001282677.1:c.318T>A | NP_001269606.1:p.Val106= | |
| NM_001282678.1:c.-342T>A | NP_001269607.1:n.-342T>A | |
| XR_242246.3:n.414T>A | ||
| XR_242246.5:n.365T>A | ||
| NM_000466.3:c.318T>A MANE Select | NP_000457.1:p.Val106= | |
| NM_001282677.2:c.318T>A | NP_001269606.1:p.Val106= | |
| NM_001282678.2:c.-342T>A | NP_001269607.1:n.-342T>A |