Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110835861T>G , CM000672.2:g.110835861T>G | GRCh38 |
| NC_000010.10:g.112595619T>G , CM000672.1:g.112595619T>G | GRCh37 |
| NC_000010.9:g.112585609T>G | NCBI36 |
| NG_021177.1:g.196465T>G , LRG_382:g.196465T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.3574-7T>G MANE Select | ENSP00000358532.3:n.3574-7T>G | |
| ENST00000369519.3:c.3574-7T>G | ENSP00000358532.3:n.3574-7T>G | |
| ENST00000465774.2:n.515-7T>G | ||
| ENST00000480343.2:n.207-7T>G | ||
| NM_001134363.2:c.3574-7T>G | NP_001127835.2:n.3574-7T>G | |
| XM_011539697.1:c.3190-7T>G | XP_011537999.1:n.3190-7T>G | |
| XM_017016103.2:c.3409-7T>G | XP_016871592.1:n.3409-7T>G | |
| XM_017016104.2:c.3190-7T>G | XP_016871593.1:n.3190-7T>G | |
| NM_001134363.3:c.3574-7T>G MANE Select | NP_001127835.2:n.3574-7T>G |