Linked Data
ClinVar Variation Id:
341508
dbSNP Id:
rs183685723
ExAC:
22:36689832 C / T
gnomAD v2:
22-36689832-C-T
gnomAD v3:
22-36293786-C-T
gnomAD v4:
22-36293786-C-T
COSMIC:
COSM5020354
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36293786C>T , CM000684.2:g.36293786C>T | GRCh38 |
| NC_000022.10:g.36689832C>T , CM000684.1:g.36689832C>T | GRCh37 |
| NC_000022.9:g.35019778C>T | NCBI36 |
| NG_011884.2:g.99233G>A , LRG_567:g.99233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685801.1:c.3978G>A | ENSP00000510688.1:p.Ala1326= | |
| ENST00000691109.1:n.4210G>A | ||
| ENST00000216181.11:c.3915G>A MANE Select | ENSP00000216181.6:p.Ala1305= | |
| ENST00000216181.9:c.3915G>A | ENSP00000216181.5:p.Ala1305= | |
| NM_002473.5:c.3915G>A , LRG_567t1:c.3915G>A | NP_002464.1:p.Ala1305= | |
| XM_011530197.1:c.3915G>A | XP_011528499.1:p.Ala1305= | |
| XM_011530197.2:c.3915G>A | XP_011528499.1:p.Ala1305= | |
| XM_017028803.1:c.3915G>A | XP_016884292.1:p.Ala1305= | |
| XM_017028804.1:c.3915G>A | XP_016884293.1:p.Ala1305= | |
| XM_017028805.1:c.3915G>A | XP_016884294.1:p.Ala1305= | |
| XM_017028806.1:c.3915G>A | XP_016884295.1:p.Ala1305= | |
| NM_002473.6:c.3915G>A MANE Select | NP_002464.1:p.Ala1305= |