Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185789C= , CM000679.2:g.50185789C= | GRCh38 |
| NC_000017.10:g.48263150C= , CM000679.1:g.48263150C= | GRCh37 |
| NC_000017.9:g.45618149C= | NCBI36 |
| NG_007400.1:g.20851G= , LRG_1:g.20851G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4237G= MANE Select | ENSP00000225964.6:p.Asp1413= | |
| ENST00000225964.9:c.4237G= | ENSP00000225964.5:p.Asp1413= | |
| NM_000088.3:c.4237G= , LRG_1t1:c.4237G= | NP_000079.2:p.Asp1413= | |
| XM_005257058.3:c.3967G= | XP_005257115.2:p.Asp1323= | |
| XM_005257059.3:c.3319G= | XP_005257116.2:p.Asp1107= | |
| XM_011524341.1:c.4039G= | XP_011522643.1:p.Asp1347= | |
| XM_005257058.4:c.3967G= | XP_005257115.2:p.Asp1323= | |
| XM_005257059.4:c.3319G= | XP_005257116.2:p.Asp1107= | |
| NM_000088.4:c.4237G= MANE Select | NP_000079.2:p.Asp1413= |