Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225587T>G , CM000668.2:g.3225587T>G | GRCh38 |
| NC_000006.11:g.3225821T>G , CM000668.1:g.3225821T>G | GRCh37 |
| NC_000006.10:g.3170820T>G | NCBI36 |
| NG_016715.1:g.7148A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.502A>C MANE Select | ENSP00000259818.6:p.Ser168Arg | |
| ENST00000680070.1:n.1432A>C | ||
| ENST00000681707.1:n.1329A>C | ||
| ENST00000681757.1:n.807A>C | ||
| ENST00000259818.7:c.502A>C | ENSP00000259818.6:p.Ser168Arg | |
| ENST00000473006.1:n.619A>C | ||
| NM_178012.4:c.502A>C | NP_821080.1:p.Ser168Arg | |
| XM_011514571.1:c.286A>C | XP_011512873.1:p.Ser96Arg | |
| NM_178012.5:c.502A>C MANE Select | NP_821080.1:p.Ser168Arg |