Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060168G>C , CM000664.2:g.219060168G>C | GRCh38 |
| NC_000002.11:g.219924890G>C , CM000664.1:g.219924890G>C | GRCh37 |
| NC_000002.10:g.219633134G>C | NCBI36 |
| NG_016741.1:g.5349C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002181.4:c.300C>G MANE Select | NP_002172.2:p.Asp100Glu |
| ENST00000295731.7:c.300C>G MANE Select | ENSP00000295731.5:p.Asp100Glu |
| NM_002181.3:c.300C>G | NP_002172.2:p.Asp100Glu |
| ENST00000295731.6:c.300C>G | ENSP00000295731.5:p.Asp100Glu |