Linked Data
ClinVar Variation Id:
374514
ClinVar RCV Id:
RCV000416058
dbSNP Id:
rs191010489
ExAC:
5:78293897 G / A
gnomAD v2:
5-78293897-G-A
gnomAD v3:
5-78998074-G-A
gnomAD v4:
5-78998074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78998074G>A , CM000667.2:g.78998074G>A | GRCh38 |
| NC_000005.9:g.78293897G>A , CM000667.1:g.78293897G>A | GRCh37 |
| NC_000005.8:g.78329653G>A | NCBI36 |
| NG_012164.1:g.76553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255189.8:c.*8C>T MANE Select | ENSP00000255189.3:n.*8C>T | |
| ENST00000255189.7:c.*8C>T | ENSP00000255189.3:n.*8C>T | |
| NM_013391.3:c.*8C>T MANE Select | NP_037523.2:n.*8C>T |