Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128310105A>C , CM000667.2:g.128310105A>C | GRCh38 |
| NC_000005.9:g.127645797A>C , CM000667.1:g.127645797A>C | GRCh37 |
| NC_000005.8:g.127673696A>C | NCBI36 |
| NG_008750.1:g.232939T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1862T>G | ||
| ENST00000703785.1:n.1781T>G | ||
| ENST00000262464.9:c.5078T>G MANE Select | ENSP00000262464.4:p.Ile1693Ser | |
| ENST00000262464.8:c.5078T>G | ENSP00000262464.4:p.Ile1693Ser | |
| ENST00000508053.5:c.5078T>G | ENSP00000424571.1:p.Ile1693Ser | |
| ENST00000619499.4:c.5075T>G | ENSP00000482132.1:p.Ile1692Ser | |
| NM_001999.3:c.5078T>G | NP_001990.2:p.Ile1693Ser | |
| XM_017009228.2:c.4925T>G | XP_016864717.1:p.Ile1642Ser | |
| NM_001999.4:c.5078T>G MANE Select | NP_001990.2:p.Ile1693Ser |