Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459754T>A , CM000675.2:g.48459754T>A | GRCh38 |
| NC_000013.10:g.49033890T>A , CM000675.1:g.49033890T>A | GRCh37 |
| NC_000013.9:g.47931891T>A | NCBI36 |
| NG_009009.1:g.161008T>A , LRG_517:g.161008T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2027T>A MANE Select | ENSP00000267163.4:p.Leu676Ter | |
| ENST00000643064.1:c.194+78311T>A | ||
| ENST00000650461.1:c.2027T>A | ENSP00000497193.1:p.Leu676Ter | |
| ENST00000267163.4:c.2027T>A | ENSP00000267163.4:p.Leu676Ter | |
| NM_000321.2:c.2027T>A , LRG_517t1:c.2027T>A | NP_000312.2:p.Leu676Ter | |
| XM_011535171.1:c.1766T>A | XP_011533473.1:p.Leu589Ter | |
| XM_011535171.2:c.1766T>A | XP_011533473.1:p.Leu589Ter | |
| NM_000321.3:c.2027T>A MANE Select | NP_000312.2:p.Leu676Ter |