Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185791A= , CM000679.2:g.50185791A= | GRCh38 |
| NC_000017.10:g.48263152A= , CM000679.1:g.48263152A= | GRCh37 |
| NC_000017.9:g.45618151A= | NCBI36 |
| NG_007400.1:g.20849T= , LRG_1:g.20849T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4235T= MANE Select | ENSP00000225964.6:p.Val1412= | |
| ENST00000225964.9:c.4235T= | ENSP00000225964.5:p.Val1412= | |
| NM_000088.3:c.4235T= , LRG_1t1:c.4235T= | NP_000079.2:p.Val1412= | |
| XM_005257058.3:c.3965T= | XP_005257115.2:p.Val1322= | |
| XM_005257059.3:c.3317T= | XP_005257116.2:p.Val1106= | |
| XM_011524341.1:c.4037T= | XP_011522643.1:p.Val1346= | |
| XM_005257058.4:c.3965T= | XP_005257115.2:p.Val1322= | |
| XM_005257059.4:c.3317T= | XP_005257116.2:p.Val1106= | |
| NM_000088.4:c.4235T= MANE Select | NP_000079.2:p.Val1412= |