Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189010685T= , CM000664.2:g.189010685T= | GRCh38 |
| NC_000002.11:g.189875411T= , CM000664.1:g.189875411T= | GRCh37 |
| NC_000002.10:g.189583656T= | NCBI36 |
| NG_007404.1:g.41313T= , LRG_3:g.41313T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3950T= | ENSP00000415346.2:p.Leu1317= | |
| ENST00000304636.9:c.4049T= MANE Select | ENSP00000304408.4:p.Leu1350= | |
| ENST00000304636.7:c.4049T= | ENSP00000304408.3:p.Leu1350= | |
| ENST00000317840.9:c.3140T= | ENSP00000315243.6:p.Leu1047= | |
| ENST00000487010.1:n.1428T= | ||
| NM_000090.3:c.4049T= , LRG_3t1:c.4049T= | NP_000081.1:p.Leu1350= | |
| NM_000090.4:c.4049T= MANE Select | NP_000081.2:p.Leu1350= |