Linked Data
ClinVar Variation Id:
92688
ClinVar RCV Id:
RCV002251962
dbSNP Id:
rs398123278
ExAC:
6:49427089 G / A
gnomAD v2:
6-49427089-G-A
gnomAD v3:
6-49459376-G-A
gnomAD v4:
6-49459376-G-A
COSMIC:
COSM3353925
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459376G>A , CM000668.2:g.49459376G>A | GRCh38 |
| NC_000006.11:g.49427089G>A , CM000668.1:g.49427089G>A | GRCh37 |
| NC_000006.10:g.49535048G>A | NCBI36 |
| NG_007100.1:g.8764C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.91C>T MANE Select | ENSP00000274813.3:p.Arg31Ter | |
| ENST00000274813.3:c.91C>T | ENSP00000274813.3:p.Arg31Ter | |
| NM_000255.3:c.91C>T | NP_000246.2:p.Arg31Ter | |
| XM_005249143.2:c.91C>T | XP_005249200.1:p.Arg31Ter | |
| XM_005249143.3:c.91C>T | XP_005249200.1:p.Arg31Ter | |
| NM_000255.4:c.91C>T MANE Select | NP_000246.2:p.Arg31Ter |