Linked Data
ClinVar Variation Id:
927050
ClinVar RCV Id:
RCV001190058
dbSNP Id:
rs1188736507
gnomAD v2:
11-47359327-G-A
gnomAD v3:
11-47337776-G-A
gnomAD v4:
11-47337776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337776G>A , CM000673.2:g.47337776G>A | GRCh38 |
| NC_000011.9:g.47359327G>A , CM000673.1:g.47359327G>A | GRCh37 |
| NC_000011.8:g.47315903G>A | NCBI36 |
| NG_007667.1:g.19927C>T , LRG_386:g.19927C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2327C>T MANE Select | ENSP00000442795.1:p.Ala776Val | |
| ENST00000256993.8:c.2327C>T | ENSP00000256993.5:p.Ala776Val | |
| ENST00000399249.6:c.2327C>T | ENSP00000382193.2:p.Ala776Val | |
| ENST00000544791.1:c.2327C>T | ENSP00000444259.1:p.Ala776Val | |
| ENST00000545968.5:c.2327C>T | ENSP00000442795.1:p.Ala776Val | |
| NM_000256.3:c.2327C>T , LRG_386t1:c.2327C>T MANE Select | NP_000247.2:p.Ala776Val | |
| XM_011520117.1:c.2309C>T | XP_011518419.1:p.Ala770Val | |
| XM_011520118.1:c.2246C>T | XP_011518420.1:p.Ala749Val |