Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459776T= , CM000675.2:g.48459776T= | GRCh38 |
| NC_000013.10:g.49033912T= , CM000675.1:g.49033912T= | GRCh37 |
| NC_000013.9:g.47931913T= | NCBI36 |
| NG_009009.1:g.161030T= , LRG_517:g.161030T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2049T= MANE Select | ENSP00000267163.4:p.Leu683= | |
| ENST00000643064.1:c.194+78333T= | ||
| ENST00000650461.1:c.2049T= | ENSP00000497193.1:p.Leu683= | |
| ENST00000267163.4:c.2049T= | ENSP00000267163.4:p.Leu683= | |
| NM_000321.2:c.2049T= , LRG_517t1:c.2049T= | NP_000312.2:p.Leu683= | |
| XM_011535171.1:c.1788T= | XP_011533473.1:p.Leu596= | |
| XM_011535171.2:c.1788T= | XP_011533473.1:p.Leu596= | |
| NM_000321.3:c.2049T= MANE Select | NP_000312.2:p.Leu683= |