Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.25423150A>C , CM000670.2:g.25423150A>C | GRCh38 |
| NC_000008.10:g.25280666A>C , CM000670.1:g.25280666A>C | GRCh37 |
| NC_000008.9:g.25336583A>C | NCBI36 |
| NG_016457.1:g.6891T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001083111.2:c.141+40T>G MANE Select | NP_001076580.1:n.141+40T>G |
| ENST00000421054.7:c.141+40T>G MANE Select | ENSP00000391280.2:n.141+40T>G |
| NM_000825.3:c.153+40T>G | NP_000816.4:n.153+40T>G |
| NM_001083111.1:c.141+40T>G | NP_001076580.1:n.141+40T>G |
| ENST00000276414.4:c.141+40T>G | ENSP00000276414.4:n.141+40T>G |
| ENST00000421054.6:c.141+40T>G | ENSP00000391280.2:n.141+40T>G |