Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100566516A>G , CM000664.2:g.100566516A>G | GRCh38 |
| NC_000002.11:g.101182978A>G , CM000664.1:g.101182978A>G | GRCh37 |
| NC_000002.10:g.100549410A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024065.5:c.20A>G MANE Select | NP_076970.1:p.Asp7Gly |
| ENST00000264254.11:c.20A>G MANE Select | ENSP00000264254.6:p.Asp7Gly |
| NM_024065.4:c.20A>G | NP_076970.1:p.Asp7Gly |
| ENST00000264254.10:c.20A>G | ENSP00000264254.6:p.Asp7Gly |
| ENST00000416255.5:c.-131A>G | ENSP00000413936.1:n.-131A>G |
| XM_017004890.1:c.-131A>G | XP_016860379.1:n.-131A>G |