Linked Data
ClinVar Variation Id:
183828
dbSNP Id:
rs62625283
gnomAD v4:
16-23603602-A-C
PubMed:
PMID:25225577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603602A>C , CM000678.2:g.23603602A>C | GRCh38 |
| NC_000016.9:g.23614923A>C , CM000678.1:g.23614923A>C | GRCh37 |
| NC_000016.8:g.23522424A>C | NCBI36 |
| NG_007406.1:g.42756T>G , LRG_308:g.42756T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.3424T>G | ENSP00000460666.3:p.Trp1142Gly | |
| ENST00000565038.2:c.*903T>G | ENSP00000459882.2:n.*903T>G | |
| ENST00000566069.6:c.*53T>G | ENSP00000459237.2:n.*53T>G | |
| ENST00000697377.2:c.3262T>G | ENSP00000513286.2:p.Trp1088Gly | |
| ENST00000697379.2:c.3424T>G | ENSP00000513287.2:p.Trp1142Gly | |
| ENST00000561514.2:c.2533T>G | ENSP00000460666.2:p.Trp845Gly | |
| ENST00000697374.1:c.2533T>G | ENSP00000513284.1:p.Trp845Gly | |
| ENST00000697375.1:n.4765T>G | ||
| ENST00000697376.1:c.*53T>G | ENSP00000513285.1:n.*53T>G | |
| ENST00000697377.1:c.2371T>G | ENSP00000513286.1:p.Trp791Gly | |
| ENST00000697378.1:n.3938T>G | ||
| ENST00000697379.1:c.2533T>G | ENSP00000513287.1:p.Trp845Gly | |
| ENST00000697380.1:n.2622T>G | ||
| ENST00000697381.1:n.2113T>G | ||
| ENST00000697382.1:c.*195T>G | ENSP00000513288.1:n.*195T>G | |
| ENST00000697383.1:c.952T>G | ENSP00000513289.1:p.Trp318Gly | |
| ENST00000261584.9:c.3418T>G MANE Select | ENSP00000261584.4:p.Trp1140Gly | |
| ENST00000261584.8:c.3418T>G | ENSP00000261584.4:p.Trp1140Gly | |
| ENST00000566069.5:c.184T>G | ||
| ENST00000568219.5:c.2533T>G | ENSP00000454703.2:p.Trp845Gly | |
| NM_024675.3:c.3418T>G , LRG_308t1:c.3418T>G | NP_078951.2:p.Trp1140Gly | |
| XM_011545946.1:c.3424T>G | XP_011544248.1:p.Trp1142Gly | |
| XM_011545947.1:c.*53T>G | XP_011544249.1:n.*53T>G | |
| XM_011545948.1:c.2533T>G | XP_011544250.1:p.Trp845Gly | |
| XR_950851.1:n.4126T>G | ||
| XM_011545946.2:c.3424T>G | XP_011544248.1:p.Trp1142Gly | |
| XM_011545947.2:c.*53T>G | XP_011544249.1:n.*53T>G | |
| XM_011545948.2:c.2533T>G | XP_011544250.1:p.Trp845Gly | |
| XM_017023671.1:c.3187T>G | XP_016879160.1:p.Trp1063Gly | |
| XM_017023672.2:c.3181T>G | XP_016879161.1:p.Trp1061Gly | |
| XM_017023673.2:c.*53T>G | XP_016879162.1:n.*53T>G | |
| NM_024675.4:c.3418T>G MANE Select | NP_078951.2:p.Trp1140Gly |