Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980608G= , CM000667.2:g.149980608G= | GRCh38 |
| NC_000005.9:g.149360171G= , CM000667.1:g.149360171G= | GRCh37 |
| NC_000005.8:g.149340364G= | NCBI36 |
| NG_007147.2:g.21726G= , LRG_684:g.21726G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1015G= MANE Select | ENSP00000286298.4:p.Val339= | |
| ENST00000286298.4:c.1015G= | ENSP00000286298.4:p.Val339= | |
| ENST00000503336.1:c.372+2257G= | ENSP00000426053.1:n.372+2257G= | |
| NM_000112.3:c.1015G= , LRG_684t1:c.1015G= | NP_000103.2:p.Val339= | |
| XM_017009191.2:c.1015G= | XP_016864680.1:p.Val339= | |
| NM_000112.4:c.1015G= MANE Select | NP_000103.2:p.Val339= |