Linked Data
ClinVar Variation Id:
100240
dbSNP Id:
rs33978901
ExAC:
12:6140659 C / T
gnomAD v2:
12-6140659-C-T
gnomAD v3:
12-6031493-C-T
gnomAD v4:
12-6031493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6031493C>T , CM000674.2:g.6031493C>T | GRCh38 |
| NC_000012.11:g.6140659C>T , CM000674.1:g.6140659C>T | GRCh37 |
| NC_000012.10:g.6010920C>T | NCBI36 |
| NG_009072.1:g.98178G>A | |
| NG_009072.2:g.98178G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261405.10:c.2771G>A MANE Select | ENSP00000261405.5:p.Arg924Gln | |
| ENST00000261405.9:c.2771G>A | ENSP00000261405.5:p.Arg924Gln | |
| ENST00000538635.5:n.421-37559G>A | ||
| NM_000552.3:c.2771G>A | NP_000543.2:p.Arg924Gln | |
| NM_000552.4:c.2771G>A | NP_000543.2:p.Arg924Gln | |
| NM_000552.5:c.2771G>A MANE Select | NP_000543.3:p.Arg924Gln |