Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185625C= , CM000679.2:g.50185625C= | GRCh38 |
| NC_000017.10:g.48262986C= , CM000679.1:g.48262986C= | GRCh37 |
| NC_000017.9:g.45617985C= | NCBI36 |
| NG_007400.1:g.21015G= , LRG_1:g.21015G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4272G= MANE Select | ENSP00000225964.6:p.Lys1424= | |
| ENST00000225964.9:c.4272G= | ENSP00000225964.5:p.Lys1424= | |
| NM_000088.3:c.4272G= , LRG_1t1:c.4272G= | NP_000079.2:p.Lys1424= | |
| XM_005257058.3:c.4002G= | XP_005257115.2:p.Lys1334= | |
| XM_005257059.3:c.3354G= | XP_005257116.2:p.Lys1118= | |
| XM_011524341.1:c.4074G= | XP_011522643.1:p.Lys1358= | |
| XM_005257058.4:c.4002G= | XP_005257115.2:p.Lys1334= | |
| XM_005257059.4:c.3354G= | XP_005257116.2:p.Lys1118= | |
| NM_000088.4:c.4272G= MANE Select | NP_000079.2:p.Lys1424= |