Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459733T= , CM000675.2:g.48459733T= | GRCh38 |
| NC_000013.10:g.49033869T= , CM000675.1:g.49033869T= | GRCh37 |
| NC_000013.9:g.47931870T= | NCBI36 |
| NG_009009.1:g.160987T= , LRG_517:g.160987T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2006T= MANE Select | ENSP00000267163.4:p.Leu669= | |
| ENST00000643064.1:c.194+78290T= | ||
| ENST00000650461.1:c.2006T= | ENSP00000497193.1:p.Leu669= | |
| ENST00000267163.4:c.2006T= | ENSP00000267163.4:p.Leu669= | |
| NM_000321.2:c.2006T= , LRG_517t1:c.2006T= | NP_000312.2:p.Leu669= | |
| XM_011535171.1:c.1745T= | XP_011533473.1:p.Leu582= | |
| XM_011535171.2:c.1745T= | XP_011533473.1:p.Leu582= | |
| NM_000321.3:c.2006T= MANE Select | NP_000312.2:p.Leu669= |