Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84443366C= , CM000664.2:g.84443366C= | GRCh38 |
| NC_000002.11:g.84670490C= , CM000664.1:g.84670490C= | GRCh37 |
| NC_000002.10:g.84524001C= | NCBI36 |
| NG_016755.1:g.21097G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003849.4:c.236G= MANE Select | NP_003840.2:p.Gly79= |
| ENST00000393868.7:c.236G= MANE Select | ENSP00000377446.2:p.Gly79= |
| NM_003849.3:c.236G= | NP_003840.2:p.Gly79= |
| ENST00000393868.6:c.236G= | ENSP00000377446.2:p.Gly79= |
| ENST00000430989.1:n.213G= | |
| ENST00000442240.5:c.247G= | |
| ENST00000483605.5:n.315G= | |
| ENST00000491642.5:n.408G= | |
| ENST00000651342.1:c.236G= | ENSP00000498471.1:p.Gly79= |