Linked Data
ClinVar Variation Id:
660384
ClinVar RCV Id:
RCV003532280
dbSNP Id:
rs1247018816
gnomAD v2:
11-47359328-C-T
gnomAD v4:
11-47337777-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337777C>T , CM000673.2:g.47337777C>T | GRCh38 |
| NC_000011.9:g.47359328C>T , CM000673.1:g.47359328C>T | GRCh37 |
| NC_000011.8:g.47315904C>T | NCBI36 |
| NG_007667.1:g.19926G>A , LRG_386:g.19926G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2326G>A MANE Select | ENSP00000442795.1:p.Ala776Thr | |
| ENST00000256993.8:c.2326G>A | ENSP00000256993.5:p.Ala776Thr | |
| ENST00000399249.6:c.2326G>A | ENSP00000382193.2:p.Ala776Thr | |
| ENST00000544791.1:c.2326G>A | ENSP00000444259.1:p.Ala776Thr | |
| ENST00000545968.5:c.2326G>A | ENSP00000442795.1:p.Ala776Thr | |
| NM_000256.3:c.2326G>A , LRG_386t1:c.2326G>A MANE Select | NP_000247.2:p.Ala776Thr | |
| XM_011520117.1:c.2308G>A | XP_011518419.1:p.Ala770Thr | |
| XM_011520118.1:c.2245G>A | XP_011518420.1:p.Ala749Thr |