Linked Data
ClinVar Variation Id:
126735
dbSNP Id:
rs515726114
ExAC:
16:23619174 T / C
gnomAD v2:
16-23619174-T-C
gnomAD v4:
16-23607853-T-C
PubMed:
PMID:22241545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23607853T>C , CM000678.2:g.23607853T>C | GRCh38 |
| NC_000016.9:g.23619174T>C , CM000678.1:g.23619174T>C | GRCh37 |
| NC_000016.8:g.23526675T>C | NCBI36 |
| NG_007406.1:g.38505A>G , LRG_308:g.38505A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3356+11A>G | ENSP00000460666.3:n.3356+11A>G | |
| ENST00000565038.2:c.*835+7A>G | ENSP00000459882.2:n.*835+7A>G | |
| ENST00000566069.6:c.3202-4184A>G | ENSP00000459237.2:n.3202-4184A>G | |
| ENST00000697377.2:c.3194+11A>G | ENSP00000513286.2:n.3194+11A>G | |
| ENST00000697379.2:c.3356+11A>G | ENSP00000513287.2:n.3356+11A>G | |
| ENST00000561514.2:c.2465+11A>G | ENSP00000460666.2:n.2465+11A>G | |
| ENST00000697374.1:c.2465+11A>G | ENSP00000513284.1:n.2465+11A>G | |
| ENST00000697375.1:n.4697+11A>G | ||
| ENST00000697376.1:c.2317-4184A>G | ENSP00000513285.1:n.2317-4184A>G | |
| ENST00000697377.1:c.2303+11A>G | ENSP00000513286.1:n.2303+11A>G | |
| ENST00000697378.1:n.3870+11A>G | ||
| ENST00000697379.1:c.2465+11A>G | ENSP00000513287.1:n.2465+11A>G | |
| ENST00000697380.1:n.2554+11A>G | ||
| ENST00000697381.1:n.2045+11A>G | ||
| ENST00000697382.1:c.*127+11A>G | ENSP00000513288.1:n.*127+11A>G | |
| ENST00000697383.1:c.884+11A>G | ENSP00000513289.1:n.884+11A>G | |
| ENST00000261584.9:c.3350+11A>G MANE Select | ENSP00000261584.4:n.3350+11A>G | |
| ENST00000261584.8:c.3350+11A>G | ENSP00000261584.4:n.3350+11A>G | |
| ENST00000566069.5:c.117-4184A>G | ||
| ENST00000568219.5:c.2465+11A>G | ENSP00000454703.2:n.2465+11A>G | |
| NM_024675.3:c.3350+11A>G , LRG_308t1:c.3350+11A>G | NP_078951.2:n.3350+11A>G | |
| XM_011545946.1:c.3356+11A>G | XP_011544248.1:n.3356+11A>G | |
| XM_011545947.1:c.3208-4184A>G | XP_011544249.1:n.3208-4184A>G | |
| XM_011545948.1:c.2465+11A>G | XP_011544250.1:n.2465+11A>G | |
| XR_950851.1:n.4058+11A>G | ||
| XM_011545946.2:c.3356+11A>G | XP_011544248.1:n.3356+11A>G | |
| XM_011545947.2:c.3208-4184A>G | XP_011544249.1:n.3208-4184A>G | |
| XM_011545948.2:c.2465+11A>G | XP_011544250.1:n.2465+11A>G | |
| XM_017023671.1:c.3120-4184A>G | XP_016879160.1:n.3120-4184A>G | |
| XM_017023672.2:c.3114-4184A>G | XP_016879161.1:n.3114-4184A>G | |
| XM_017023673.2:c.3202-4184A>G | XP_016879162.1:n.3202-4184A>G | |
| NM_024675.4:c.3350+11A>G MANE Select | NP_078951.2:n.3350+11A>G |