Linked Data
ClinVar Variation Id:
801297
ClinVar RCV Id:
RCV000986065
dbSNP Id:
rs1286572448
gnomAD v2:
12-6153526-C-T
gnomAD v3:
12-6044360-C-T
gnomAD v4:
12-6044360-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6044360C>T , CM000674.2:g.6044360C>T | GRCh38 |
| NC_000012.11:g.6153526C>T , CM000674.1:g.6153526C>T | GRCh37 |
| NC_000012.10:g.6023787C>T | NCBI36 |
| NG_009072.1:g.85311G>A | |
| NG_009072.2:g.85311G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261405.10:c.2373G>A MANE Select | ENSP00000261405.5:p.Thr791= | |
| ENST00000261405.9:c.2373G>A | ENSP00000261405.5:p.Thr791= | |
| ENST00000538635.5:n.421-50426G>A | ||
| NM_000552.3:c.2373G>A | NP_000543.2:p.Thr791= | |
| NM_000552.4:c.2373G>A | NP_000543.2:p.Thr791= | |
| NM_000552.5:c.2373G>A MANE Select | NP_000543.3:p.Thr791= |