Linked Data
ClinVar Variation Id:
126691
dbSNP Id:
rs149522412
ExAC:
16:23634435 A / G
gnomAD v2:
16-23634435-A-G
gnomAD v3:
16-23623114-A-G
gnomAD v4:
16-23623114-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23623114A>G , CM000678.2:g.23623114A>G | GRCh38 |
| NC_000016.9:g.23634435A>G , CM000678.1:g.23634435A>G | GRCh37 |
| NC_000016.8:g.23541936A>G | NCBI36 |
| NG_007406.1:g.23244T>C , LRG_308:g.23244T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2857T>C | ENSP00000460666.3:p.Ser953Pro | |
| ENST00000565038.2:c.*332T>C | ENSP00000459882.2:n.*332T>C | |
| ENST00000566069.6:c.2851T>C | ENSP00000459237.2:p.Ser951Pro | |
| ENST00000697377.2:c.2695T>C | ENSP00000513286.2:p.Ser899Pro | |
| ENST00000697379.2:c.2857T>C | ENSP00000513287.2:p.Ser953Pro | |
| ENST00000561514.2:c.1966T>C | ENSP00000460666.2:p.Ser656Pro | |
| ENST00000697374.1:c.1966T>C | ENSP00000513284.1:p.Ser656Pro | |
| ENST00000697375.1:n.4198T>C | ||
| ENST00000697376.1:c.1966T>C | ENSP00000513285.1:p.Ser656Pro | |
| ENST00000697377.1:c.1804T>C | ENSP00000513286.1:p.Ser602Pro | |
| ENST00000697378.1:n.3371T>C | ||
| ENST00000697379.1:c.1966T>C | ENSP00000513287.1:p.Ser656Pro | |
| ENST00000697380.1:n.2143T>C | ||
| ENST00000697381.1:n.1546T>C | ||
| ENST00000697382.1:c.1966T>C | ENSP00000513288.1:p.Ser656Pro | |
| ENST00000697383.1:c.385T>C | ENSP00000513289.1:p.Ser129Pro | |
| ENST00000261584.9:c.2851T>C MANE Select | ENSP00000261584.4:p.Ser951Pro | |
| ENST00000261584.8:c.2851T>C | ENSP00000261584.4:p.Ser951Pro | |
| ENST00000568219.5:c.1966T>C | ENSP00000454703.2:p.Ser656Pro | |
| NM_024675.3:c.2851T>C , LRG_308t1:c.2851T>C | NP_078951.2:p.Ser951Pro | |
| XM_011545946.1:c.2857T>C | XP_011544248.1:p.Ser953Pro | |
| XM_011545947.1:c.2857T>C | XP_011544249.1:p.Ser953Pro | |
| XM_011545948.1:c.1966T>C | XP_011544250.1:p.Ser656Pro | |
| XR_950851.1:n.3647T>C | ||
| XM_011545946.2:c.2857T>C | XP_011544248.1:p.Ser953Pro | |
| XM_011545947.2:c.2857T>C | XP_011544249.1:p.Ser953Pro | |
| XM_011545948.2:c.1966T>C | XP_011544250.1:p.Ser656Pro | |
| XM_017023671.1:c.2857T>C | XP_016879160.1:p.Ser953Pro | |
| XM_017023672.2:c.2851T>C | XP_016879161.1:p.Ser951Pro | |
| XM_017023673.2:c.2851T>C | XP_016879162.1:p.Ser951Pro | |
| NM_024675.4:c.2851T>C MANE Select | NP_078951.2:p.Ser951Pro |