Linked Data
ClinVar Variation Id:
357244
ClinVar RCV Id:
RCV000302164
dbSNP Id:
rs886061555
gnomAD v2:
6-49398976-G-A
gnomAD v3:
6-49431263-G-A
gnomAD v4:
6-49431263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49431263G>A , CM000668.2:g.49431263G>A | GRCh38 |
| NC_000006.11:g.49398976G>A , CM000668.1:g.49398976G>A | GRCh37 |
| NC_000006.10:g.49506935G>A | NCBI36 |
| NG_007100.1:g.36877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.*465C>T MANE Select | ENSP00000274813.3:n.*465C>T | |
| ENST00000274813.3:c.*465C>T | ENSP00000274813.3:n.*465C>T | |
| NM_000255.3:c.*465C>T | NP_000246.2:n.*465C>T | |
| XM_005249143.2:c.*465C>T | XP_005249200.1:n.*465C>T | |
| NM_000255.4:c.*465C>T MANE Select | NP_000246.2:n.*465C>T |