Linked Data
ClinVar Variation Id:
8600
ClinVar RCV Id:
RCV000009131
dbSNP Id:
rs80356463
ExAC:
19:46270124 C / T
gnomAD v2:
19-46270124-C-T
gnomAD v3:
19-45766866-C-T
gnomAD v4:
19-45766866-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766866C>T , CM000681.2:g.45766866C>T | GRCh38 |
| NC_000019.9:g.46270124C>T , CM000681.1:g.46270124C>T | GRCh37 |
| NC_000019.8:g.50961964C>T | NCBI36 |
| NG_012745.1:g.7374G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317578.7:c.1093G>A MANE Select | ENSP00000316842.4:p.Gly365Arg | |
| ENST00000317578.6:c.1093G>A | ENSP00000316842.4:p.Gly365Arg | |
| ENST00000560160.1:c.587-755G>A | ||
| ENST00000560168.1:c.*281G>A | ENSP00000453189.2:n.*281G>A | |
| ENST00000622857.1:c.16-904G>A | ENSP00000481365.1:n.16-904G>A | |
| NM_175875.4:c.1093G>A | NP_787071.2:p.Gly365Arg | |
| NM_175875.5:c.1093G>A MANE Select | NP_787071.3:p.Gly365Arg |