Linked Data
ClinVar Variation Id:
357236
ClinVar RCV Id:
RCV000349277
dbSNP Id:
rs781039564
gnomAD v2:
6-49398189-A-G
gnomAD v3:
6-49430476-A-G
gnomAD v4:
6-49430476-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49430476A>G , CM000668.2:g.49430476A>G | GRCh38 |
| NC_000006.11:g.49398189A>G , CM000668.1:g.49398189A>G | GRCh37 |
| NC_000006.10:g.49506148A>G | NCBI36 |
| NG_007100.1:g.37664T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.*1252T>C MANE Select | ENSP00000274813.3:n.*1252T>C | |
| ENST00000274813.3:c.*1252T>C | ENSP00000274813.3:n.*1252T>C | |
| NM_000255.3:c.*1252T>C | NP_000246.2:n.*1252T>C | |
| XM_005249143.2:c.*1252T>C | XP_005249200.1:n.*1252T>C | |
| NM_000255.4:c.*1252T>C MANE Select | NP_000246.2:n.*1252T>C |