Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459721T= , CM000675.2:g.48459721T= | GRCh38 |
| NC_000013.10:g.49033857T= , CM000675.1:g.49033857T= | GRCh37 |
| NC_000013.9:g.47931858T= | NCBI36 |
| NG_009009.1:g.160975T= , LRG_517:g.160975T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1994T= MANE Select | NP_000312.2:p.Leu665= |
| ENST00000267163.6:c.1994T= MANE Select | ENSP00000267163.4:p.Leu665= |
| NM_000321.2:c.1994T= , LRG_517t1:c.1994T= | NP_000312.2:p.Leu665= |
| ENST00000267163.4:c.1994T= | ENSP00000267163.4:p.Leu665= |
| ENST00000643064.1:c.194+78278T= | |
| ENST00000650461.1:c.1994T= | ENSP00000497193.1:p.Leu665= |
| XM_011535171.1:c.1733T= | XP_011533473.1:p.Leu578= |
| XM_011535171.2:c.1733T= | XP_011533473.1:p.Leu578= |