Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980866A>G , CM000667.2:g.149980866A>G | GRCh38 |
| NC_000005.9:g.149360429A>G , CM000667.1:g.149360429A>G | GRCh37 |
| NC_000005.8:g.149340622A>G | NCBI36 |
| NG_007147.2:g.21984A>G , LRG_684:g.21984A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286298.5:c.1273A>G MANE Select | ENSP00000286298.4:p.Asn425Asp | |
| ENST00000286298.4:c.1273A>G | ENSP00000286298.4:p.Asn425Asp | |
| ENST00000503336.1:c.372+2515A>G | ENSP00000426053.1:n.372+2515A>G | |
| NM_000112.3:c.1273A>G , LRG_684t1:c.1273A>G | NP_000103.2:p.Asn425Asp | |
| XM_017009191.2:c.1273A>G | XP_016864680.1:p.Asn425Asp | |
| NM_000112.4:c.1273A>G MANE Select | NP_000103.2:p.Asn425Asp |