Linked Data
dbSNP Id:
rs934695385
gnomAD v2:
5-1213750-C-T
gnomAD v3:
5-1213635-C-T
gnomAD v4:
5-1213635-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213635C>T , CM000667.2:g.1213635C>T | GRCh38 |
| NC_000005.9:g.1213750C>T , CM000667.1:g.1213750C>T | GRCh37 |
| NC_000005.8:g.1266750C>T | NCBI36 |
| NG_008282.1:g.17041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.774+62C>T MANE Select | ENSP00000305302.10:n.774+62C>T | |
| ENST00000304460.10:c.774+62C>T | ENSP00000305302.10:n.774+62C>T | |
| ENST00000515652.5:c.682+62C>T | ENSP00000425701.1:n.682+62C>T | |
| NM_001003841.2:c.774+62C>T | NP_001003841.1:n.774+62C>T | |
| NM_001003841.3:c.774+62C>T MANE Select | NP_001003841.1:n.774+62C>T |