Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541203T= , CM000680.2:g.31541203T= | GRCh38 |
| NC_000018.9:g.29121166T= , CM000680.1:g.29121166T= | GRCh37 |
| NC_000018.8:g.27375164T= | NCBI36 |
| NG_007072.3:g.47962T= , LRG_397:g.47962T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1890T= MANE Select | ENSP00000261590.8:p.Leu630= | |
| ENST00000261590.12:c.1890T= | ENSP00000261590.8:p.Leu630= | |
| NM_001943.3:c.1890T= , LRG_397t1:c.1890T= | NP_001934.2:p.Leu630= | |
| NM_001943.4:c.1890T= | NP_001934.2:p.Leu630= | |
| XM_024451095.1:c.1356T= | XP_024306863.1:p.Leu452= | |
| NM_001943.5:c.1890T= MANE Select | NP_001934.2:p.Leu630= |