Linked Data
ClinVar Variation Id:
348820
ClinVar RCV Id:
RCV000328920
dbSNP Id:
rs748066741
ExAC:
4:42964902 C / T
gnomAD v2:
4-42964902-C-T
gnomAD v4:
4-42962885-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42962885C>T , CM000666.2:g.42962885C>T | GRCh38 |
| NC_000004.11:g.42964902C>T , CM000666.1:g.42964902C>T | GRCh37 |
| NC_000004.10:g.42659659C>T | NCBI36 |
| NG_027718.1:g.74620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.385-7C>T MANE Select | ENSP00000382670.2:n.385-7C>T | |
| ENST00000399770.2:c.385-7C>T | ENSP00000382670.2:n.385-7C>T | |
| NM_001080476.2:c.385-7C>T | NP_001073945.1:n.385-7C>T | |
| XM_011513691.1:c.22-7C>T | XP_011511993.1:n.22-7C>T | |
| NM_001080476.3:c.385-7C>T MANE Select | NP_001073945.1:n.385-7C>T |