Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188994264C>T , CM000664.2:g.188994264C>T | GRCh38 |
| NC_000002.11:g.189858990C>T , CM000664.1:g.189858990C>T | GRCh37 |
| NC_000002.10:g.189567235C>T | NCBI36 |
| NG_007404.1:g.24892C>T , LRG_3:g.24892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1126C>T | ENSP00000415346.2:p.Leu376= | |
| ENST00000304636.9:c.1225C>T MANE Select | ENSP00000304408.4:p.Leu409= | |
| ENST00000304636.7:c.1225C>T | ENSP00000304408.3:p.Leu409= | |
| ENST00000317840.9:c.1225C>T | ENSP00000315243.6:p.Leu409= | |
| ENST00000450867.1:c.224C>T | ||
| NM_000090.3:c.1225C>T , LRG_3t1:c.1225C>T | NP_000081.1:p.Leu409= | |
| NM_000090.4:c.1225C>T MANE Select | NP_000081.2:p.Leu409= |