Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41747357G= , CM000666.2:g.41747357G= | GRCh38 |
| NC_000004.11:g.41749374G= , CM000666.1:g.41749374G= | GRCh37 |
| NC_000004.10:g.41444131G= | NCBI36 |
| NG_008243.1:g.6614C= , LRG_513:g.6614C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.421C= MANE Select | ENSP00000226382.2:p.Arg141= | |
| ENST00000226382.3:c.421C= | ENSP00000226382.2:p.Arg141= | |
| ENST00000510424.2:n.242C= | ||
| NM_003924.3:c.421C= , LRG_513t1:c.421C= | NP_003915.2:p.Arg141= | |
| NM_003924.4:c.421C= MANE Select | NP_003915.2:p.Arg141= |