Linked Data
dbSNP Id:
rs1310109819
gnomAD v2:
17-38121888-C-T
gnomAD v3:
17-39965635-C-T
gnomAD v4:
17-39965635-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39965635C>T , CM000679.2:g.39965635C>T | GRCh38 |
| NC_000017.10:g.38121888C>T , CM000679.1:g.38121888C>T | GRCh37 |
| NC_000017.9:g.35375414C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301659.9:c.-5-48C>T MANE Select | ENSP00000301659.4:n.-5-48C>T | |
| ENST00000635792.1:c.-5-48C>T | ENSP00000490739.1:n.-5-48C>T | |
| ENST00000301659.8:c.-5-48C>T | ENSP00000301659.4:n.-5-48C>T | |
| ENST00000577447.1:c.-5-48C>T | ENSP00000461985.1:n.-5-48C>T | |
| NM_178171.4:c.-5-48C>T | NP_835465.2:n.-5-48C>T | |
| XM_006721832.2:c.-5-48C>T | XP_006721895.1:n.-5-48C>T | |
| XM_006721832.3:c.-5-48C>T | XP_006721895.1:n.-5-48C>T | |
| XM_017024502.2:c.-5-48C>T | XP_016879991.1:n.-5-48C>T | |
| XM_017024503.1:c.-5-48C>T | XP_016879992.1:n.-5-48C>T | |
| XM_017024504.2:c.-5-48C>T | XP_016879993.1:n.-5-48C>T | |
| NM_178171.5:c.-5-48C>T MANE Select | NP_835465.2:n.-5-48C>T |