Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50189521A= , CM000679.2:g.50189521A= | GRCh38 |
| NC_000017.10:g.48266882A= , CM000679.1:g.48266882A= | GRCh37 |
| NC_000017.9:g.45621881A= | NCBI36 |
| NG_007400.1:g.17119T= , LRG_1:g.17119T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000088.4:c.2685T= MANE Select | NP_000079.2:p.Pro895= |
| ENST00000225964.10:c.2685T= MANE Select | ENSP00000225964.6:p.Pro895= |
| NM_000088.3:c.2685T= , LRG_1t1:c.2685T= | NP_000079.2:p.Pro895= |
| ENST00000225964.9:c.2685T= | ENSP00000225964.5:p.Pro895= |
| XM_005257058.3:c.2667+158T= | XP_005257115.2:n.2667+158T= |
| XM_005257058.4:c.2667+158T= | XP_005257115.2:n.2667+158T= |
| XM_005257059.3:c.1767T= | XP_005257116.2:p.Pro589= |
| XM_005257059.4:c.1767T= | XP_005257116.2:p.Pro589= |
| XM_011524341.1:c.2487T= | XP_011522643.1:p.Pro829= |