Linked Data
dbSNP Id:
rs777202957
ExAC:
7:92135545 T / C
gnomAD v2:
7-92135545-T-C
gnomAD v4:
7-92506231-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92506231T>C , CM000669.2:g.92506231T>C | GRCh38 |
| NC_000007.13:g.92135545T>C , CM000669.1:g.92135545T>C | GRCh37 |
| NC_000007.12:g.91973481T>C | NCBI36 |
| NG_008341.1:g.27301A>G | |
| NG_008341.2:g.27301A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1900+17A>G MANE Select | ENSP00000248633.4:n.1900+17A>G | |
| ENST00000248633.8:c.1900+17A>G | ENSP00000248633.4:n.1900+17A>G | |
| ENST00000422866.1:c.718+17A>G | ||
| ENST00000428214.5:c.1900+17A>G | ENSP00000394413.1:n.1900+17A>G | |
| ENST00000438045.5:c.934+17A>G | ENSP00000410438.1:n.934+17A>G | |
| ENST00000484913.5:n.1939+17A>G | ||
| ENST00000496420.5:n.1576+17A>G | ||
| NM_000466.2:c.1900+17A>G | NP_000457.1:n.1900+17A>G | |
| NM_001282677.1:c.1900+17A>G | NP_001269606.1:n.1900+17A>G | |
| NM_001282678.1:c.1276+17A>G | NP_001269607.1:n.1276+17A>G | |
| XM_005250433.3:c.151+17A>G | XP_005250490.1:n.151+17A>G | |
| XR_242246.3:n.1996+17A>G | ||
| XM_017012319.2:c.151+17A>G | XP_016867808.1:n.151+17A>G | |
| XR_001744808.2:n.927+17A>G | ||
| XR_242246.5:n.1947+17A>G | ||
| NM_000466.3:c.1900+17A>G MANE Select | NP_000457.1:n.1900+17A>G | |
| NM_001282677.2:c.1900+17A>G | NP_001269606.1:n.1900+17A>G | |
| NM_001282678.2:c.1276+17A>G | NP_001269607.1:n.1276+17A>G |