Linked Data
ClinVar Variation Id:
629596
ClinVar RCV Id:
RCV000774306
dbSNP Id:
rs766583287
gnomAD v2:
16-23646194-A-C
gnomAD v4:
16-23634873-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23634873A>C , CM000678.2:g.23634873A>C | GRCh38 |
| NC_000016.9:g.23646194A>C , CM000678.1:g.23646194A>C | GRCh37 |
| NC_000016.8:g.23553695A>C | NCBI36 |
| NG_007406.1:g.11485T>G , LRG_308:g.11485T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.1679T>G | ENSP00000460666.3:p.Ile560Ser | |
| ENST00000565038.2:c.211+2977T>G | ENSP00000459882.2:n.211+2977T>G | |
| ENST00000566069.6:c.1673T>G | ENSP00000459237.2:p.Ile558Ser | |
| ENST00000697377.2:c.1679T>G | ENSP00000513286.2:p.Ile560Ser | |
| ENST00000697379.2:c.1679T>G | ENSP00000513287.2:p.Ile560Ser | |
| ENST00000561514.2:c.788T>G | ENSP00000460666.2:p.Ile263Ser | |
| ENST00000697374.1:c.788T>G | ENSP00000513284.1:p.Ile263Ser | |
| ENST00000697375.1:n.3020T>G | ||
| ENST00000697376.1:c.788T>G | ENSP00000513285.1:p.Ile263Ser | |
| ENST00000697377.1:c.788T>G | ENSP00000513286.1:p.Ile263Ser | |
| ENST00000697378.1:n.2193T>G | ||
| ENST00000697379.1:c.788T>G | ENSP00000513287.1:p.Ile263Ser | |
| ENST00000697382.1:c.788T>G | ENSP00000513288.1:p.Ile263Ser | |
| ENST00000697383.1:c.49-5598T>G | ENSP00000513289.1:n.49-5598T>G | |
| ENST00000697384.1:n.1827T>G | ||
| ENST00000261584.9:c.1673T>G MANE Select | ENSP00000261584.4:p.Ile558Ser | |
| ENST00000261584.8:c.1673T>G | ENSP00000261584.4:p.Ile558Ser | |
| ENST00000565038.1:c.86+2977T>G | ||
| ENST00000568219.5:c.788T>G | ENSP00000454703.2:p.Ile263Ser | |
| NM_024675.3:c.1673T>G , LRG_308t1:c.1673T>G | NP_078951.2:p.Ile558Ser | |
| XM_011545946.1:c.1679T>G | XP_011544248.1:p.Ile560Ser | |
| XM_011545947.1:c.1679T>G | XP_011544249.1:p.Ile560Ser | |
| XM_011545948.1:c.788T>G | XP_011544250.1:p.Ile263Ser | |
| XR_950851.1:n.2469T>G | ||
| XM_011545946.2:c.1679T>G | XP_011544248.1:p.Ile560Ser | |
| XM_011545947.2:c.1679T>G | XP_011544249.1:p.Ile560Ser | |
| XM_011545948.2:c.788T>G | XP_011544250.1:p.Ile263Ser | |
| XM_017023671.1:c.1679T>G | XP_016879160.1:p.Ile560Ser | |
| XM_017023672.2:c.1673T>G | XP_016879161.1:p.Ile558Ser | |
| XM_017023673.2:c.1673T>G | XP_016879162.1:p.Ile558Ser | |
| NM_024675.4:c.1673T>G MANE Select | NP_078951.2:p.Ile558Ser |