Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41747479C= , CM000666.2:g.41747479C= | GRCh38 |
| NC_000004.11:g.41749496C= , CM000666.1:g.41749496C= | GRCh37 |
| NC_000004.10:g.41444253C= | NCBI36 |
| NG_008243.1:g.6492G= , LRG_513:g.6492G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003924.4:c.299G= MANE Select | NP_003915.2:p.Arg100= |
| ENST00000226382.4:c.299G= MANE Select | ENSP00000226382.2:p.Arg100= |
| NM_003924.3:c.299G= , LRG_513t1:c.299G= | NP_003915.2:p.Arg100= |
| ENST00000226382.3:c.299G= | ENSP00000226382.2:p.Arg100= |
| ENST00000510424.2:n.120G= |