Linked Data
ClinVar Variation Id:
350849
ClinVar RCV Id:
RCV000356950
dbSNP Id:
rs144996711
gnomAD v2:
5-132203918-C-T
gnomAD v3:
5-132868226-C-T
gnomAD v4:
5-132868226-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132868226C>T , CM000667.2:g.132868226C>T | GRCh38 |
| NC_000005.9:g.132203918C>T , CM000667.1:g.132203918C>T | GRCh37 |
| NC_000005.8:g.132231817C>T | NCBI36 |
| NG_012221.1:g.6600C>T | |
| NG_047051.1:g.3659G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378670.8:c.*644C>T MANE Select | ENSP00000367939.3:n.*644C>T | |
| NM_014402.4:c.*644C>T | NP_055217.2:n.*644C>T | |
| NM_014402.5:c.*644C>T MANE Select | NP_055217.2:n.*644C>T |