Linked Data
dbSNP Id:
rs779715315
ExAC:
18:74980503 C / T
gnomAD v2:
18-74980503-C-T
gnomAD v4:
18-77268547-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268547C>T , CM000680.2:g.77268547C>T | GRCh38 |
| NC_000018.9:g.74980503C>T , CM000680.1:g.74980503C>T | GRCh37 |
| NC_000018.8:g.73109491C>T | NCBI36 |
| NG_009223.1:g.23496C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299727.5:c.733-38C>T MANE Select | ENSP00000299727.3:n.733-38C>T | |
| ENST00000299727.4:c.733-38C>T | ENSP00000299727.3:n.733-38C>T | |
| NM_001480.3:c.733-38C>T | NP_001471.2:n.733-38C>T | |
| NM_001480.4:c.733-38C>T MANE Select | NP_001471.2:n.733-38C>T |