Linked Data
dbSNP Id:
rs781580294
ExAC:
7:92135530 G / A
gnomAD v2:
7-92135530-G-A
gnomAD v4:
7-92506216-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92506216G>A , CM000669.2:g.92506216G>A | GRCh38 |
| NC_000007.13:g.92135530G>A , CM000669.1:g.92135530G>A | GRCh37 |
| NC_000007.12:g.91973466G>A | NCBI36 |
| NG_008341.1:g.27316C>T | |
| NG_008341.2:g.27316C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1900+32C>T MANE Select | ENSP00000248633.4:n.1900+32C>T | |
| ENST00000248633.8:c.1900+32C>T | ENSP00000248633.4:n.1900+32C>T | |
| ENST00000422866.1:c.718+32C>T | ||
| ENST00000428214.5:c.1900+32C>T | ENSP00000394413.1:n.1900+32C>T | |
| ENST00000438045.5:c.934+32C>T | ENSP00000410438.1:n.934+32C>T | |
| ENST00000484913.5:n.1939+32C>T | ||
| ENST00000496420.5:n.1576+32C>T | ||
| NM_000466.2:c.1900+32C>T | NP_000457.1:n.1900+32C>T | |
| NM_001282677.1:c.1900+32C>T | NP_001269606.1:n.1900+32C>T | |
| NM_001282678.1:c.1276+32C>T | NP_001269607.1:n.1276+32C>T | |
| XM_005250433.3:c.151+32C>T | XP_005250490.1:n.151+32C>T | |
| XR_242246.3:n.1996+32C>T | ||
| XM_017012319.2:c.151+32C>T | XP_016867808.1:n.151+32C>T | |
| XR_001744808.2:n.927+32C>T | ||
| XR_242246.5:n.1947+32C>T | ||
| NM_000466.3:c.1900+32C>T MANE Select | NP_000457.1:n.1900+32C>T | |
| NM_001282677.2:c.1900+32C>T | NP_001269606.1:n.1900+32C>T | |
| NM_001282678.2:c.1276+32C>T | NP_001269607.1:n.1276+32C>T |