Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48349012T= , CM000675.2:g.48349012T= | GRCh38 |
| NC_000013.10:g.48923148T= , CM000675.1:g.48923148T= | GRCh37 |
| NC_000013.9:g.47821149T= | NCBI36 |
| NG_009009.1:g.50266T= , LRG_517:g.50266T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.596T= MANE Select | NP_000312.2:p.Leu199= |
| ENST00000267163.6:c.596T= MANE Select | ENSP00000267163.4:p.Leu199= |
| NM_000321.2:c.596T= , LRG_517t1:c.596T= | NP_000312.2:p.Leu199= |
| ENST00000267163.4:c.596T= | ENSP00000267163.4:p.Leu199= |
| ENST00000467505.5:c.138-11005T= | ENSP00000434702.1:n.138-11005T= |
| ENST00000525036.1:n.758T= | |
| ENST00000650461.1:c.596T= | ENSP00000497193.1:p.Leu199= |
| XM_011535171.1:c.335T= | XP_011533473.1:p.Leu112= |
| XM_011535171.2:c.335T= | XP_011533473.1:p.Leu112= |