Linked Data
dbSNP Id:
rs253061
gnomAD v2:
5-76014000-C-A
gnomAD v3:
5-76718175-C-A
gnomAD v4:
5-76718175-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76718175C>A , CM000667.2:g.76718175C>A | GRCh38 |
| NC_000005.9:g.76014000C>A , CM000667.1:g.76014000C>A | GRCh37 |
| NC_000005.8:g.76049756C>A | NCBI36 |
| NG_032906.1:g.7133C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319211.5:c.88+1780C>A MANE Select | ENSP00000321326.4:n.88+1780C>A | |
| ENST00000319211.4:c.88+1780C>A | ENSP00000321326.4:n.88+1780C>A | |
| NM_001311313.1:c.-398+1780C>A | NP_001298242.1:n.-398+1780C>A | |
| NM_001992.3:c.88+1780C>A | NP_001983.2:n.88+1780C>A | |
| NM_001992.4:c.88+1780C>A | NP_001983.2:n.88+1780C>A | |
| NM_001992.5:c.88+1780C>A MANE Select | NP_001983.2:n.88+1780C>A | |
| NM_001311313.2:c.-398+1780C>A | NP_001298242.1:n.-398+1780C>A |