Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128610527T>G , CM000674.2:g.128610527T>G | GRCh38 |
| NC_000012.11:g.129095072T>G , CM000674.1:g.129095072T>G | GRCh37 |
| NC_000012.10:g.127661025T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001136103.3:c.1122-5625T>G MANE Select | NP_001129575.2:n.1122-5625T>G |
| ENST00000435159.3:c.1122-5625T>G MANE Select | ENSP00000410852.2:n.1122-5625T>G |
| NM_001136103.2:c.1122-5625T>G | NP_001129575.2:n.1122-5625T>G |
| NM_001387058.1:c.1062-5625T>G | NP_001373987.1:n.1062-5625T>G |
| ENST00000435159.2:c.1122-5625T>G | ENSP00000410852.2:n.1122-5625T>G |
| XM_011538998.1:c.1062-5625T>G | XP_011537300.1:n.1062-5625T>G |
| XM_011538998.2:c.1062-5625T>G | XP_011537300.1:n.1062-5625T>G |
| XR_001748922.1:n.1355-5625T>G |