Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667271T= , CM000683.2:g.31667271T= | GRCh38 |
| NC_000021.8:g.33039584T= , CM000683.1:g.33039584T= | GRCh37 |
| NC_000021.7:g.31961455T= | NCBI36 |
| NG_008689.1:g.12650T= , LRG_652:g.12650T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.253T= MANE Select | ENSP00000270142.7:p.Leu85= | |
| ENST00000270142.10:c.253T= | ENSP00000270142.6:p.Leu85= | |
| ENST00000389995.4:c.196T= | ENSP00000374645.4:p.Leu66= | |
| ENST00000470944.1:n.1181T= | ||
| ENST00000476106.5:n.516T= | ||
| NM_000454.4:c.253T= , LRG_652t1:c.253T= | NP_000445.1:p.Leu85= | |
| NM_000454.5:c.253T= MANE Select | NP_000445.1:p.Leu85= |