Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431566A>C , CM000663.2:g.68431566A>C | GRCh38 |
| NC_000001.10:g.68897249A>C , CM000663.1:g.68897249A>C | GRCh37 |
| NC_000001.9:g.68669837A>C | NCBI36 |
| NG_008472.1:g.23394T>G | |
| NG_008472.2:g.23394T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.1148T>G MANE Select | NP_000320.1:p.Leu383Ter |
| ENST00000262340.6:c.1148T>G MANE Select | ENSP00000262340.5:p.Leu383Ter |
| NM_000329.2:c.1148T>G | NP_000320.1:p.Leu383Ter |
| ENST00000262340.5:c.1148T>G | ENSP00000262340.5:p.Leu383Ter |
| XM_017002027.1:c.872T>G | XP_016857516.1:p.Leu291Ter |