Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624520A= , CM000670.2:g.64624520A= | GRCh38 |
| NC_000008.10:g.65537077A= , CM000670.1:g.65537077A= | GRCh37 |
| NC_000008.9:g.65699631A= | NCBI36 |
| NG_008338.1:g.179272T= | |
| NG_008338.2:g.179272T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.142T= MANE Select | ENSP00000310721.3:p.Leu48= | |
| ENST00000310193.3:c.142T= | ENSP00000310721.3:p.Leu48= | |
| NM_004820.3:c.142T= | NP_004811.1:p.Leu48= | |
| NM_001324112.1:c.142T= | NP_001311041.1:p.Leu48= | |
| NM_004820.4:c.142T= | NP_004811.1:p.Leu48= | |
| XM_017014002.1:c.208T= | XP_016869491.1:p.Leu70= | |
| NM_004820.5:c.142T= MANE Select | NP_004811.1:p.Leu48= | |
| NM_001324112.2:c.142T= | NP_001311041.1:p.Leu48= |