Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965830T>C , CM000681.2:g.48965830T>C | GRCh38 |
| NC_000019.9:g.49469087T>C , CM000681.1:g.49469087T>C | GRCh37 |
| NC_000019.8:g.54160899T>C | NCBI36 |
| NG_008152.1:g.5522T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.163T>C MANE Select | NP_000137.2:p.Leu55= |
| ENST00000331825.11:c.163T>C MANE Select | ENSP00000366525.2:p.Leu55= |
| NM_000146.3:c.163T>C | NP_000137.2:p.Leu55= |
| ENST00000331825.10:c.163T>C | ENSP00000366525.2:p.Leu55= |
| ENST00000622577.2:c.163T>C | ENSP00000484043.1:p.Leu55= |
| XM_024451447.1:c.673T>C | XP_024307215.1:p.Leu225= |