Linked Data
ClinVar Variation Id:
100251
ClinVar RCV Id:
RCV000086644
dbSNP Id:
rs267607317
ExAC:
12:6132895 A / G
gnomAD v2:
12-6132895-A-G
gnomAD v3:
12-6023729-A-G
gnomAD v4:
12-6023729-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6023729A>G , CM000674.2:g.6023729A>G | GRCh38 |
| NC_000012.11:g.6132895A>G , CM000674.1:g.6132895A>G | GRCh37 |
| NC_000012.10:g.6003156A>G | NCBI36 |
| NG_009072.1:g.105942T>C | |
| NG_009072.2:g.105942T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3281T>C MANE Select | ENSP00000261405.5:p.Ile1094Thr | |
| ENST00000261405.9:c.3281T>C | ENSP00000261405.5:p.Ile1094Thr | |
| ENST00000538635.5:n.421-29795T>C | ||
| NM_000552.3:c.3281T>C | NP_000543.2:p.Ile1094Thr | |
| NM_000552.4:c.3281T>C | NP_000543.2:p.Ile1094Thr | |
| NM_000552.5:c.3281T>C MANE Select | NP_000543.3:p.Ile1094Thr |