Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873024G= , CM000664.2:g.240873024G= | GRCh38 |
| NC_000002.11:g.241812441G= , CM000664.1:g.241812441G= | GRCh37 |
| NC_000002.10:g.241461114G= | NCBI36 |
| NG_008005.1:g.9280G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.570G= MANE Select | ENSP00000302620.3:p.Gly190= | |
| ENST00000307503.3:c.570G= | ENSP00000302620.3:p.Gly190= | |
| ENST00000472436.1:n.590G= | ||
| ENST00000476698.1:n.307G= | ||
| NM_000030.2:c.570G= | NP_000021.1:p.Gly190= | |
| NM_000030.3:c.570G= MANE Select | NP_000021.1:p.Gly190= |