Revel Score:
ENST00000225964 (MANE Select)
0.960
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194419C>G , CM000679.2:g.50194419C>G | GRCh38 |
| NC_000017.10:g.48271780C>G , CM000679.1:g.48271780C>G | GRCh37 |
| NC_000017.9:g.45626779C>G | NCBI36 |
| NG_007400.1:g.12221G>C , LRG_1:g.12221G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1544G>C MANE Select | ENSP00000225964.6:p.Gly515Ala | |
| ENST00000225964.9:c.1544G>C | ENSP00000225964.5:p.Gly515Ala | |
| ENST00000471344.1:n.488G>C | ||
| NM_000088.3:c.1544G>C , LRG_1t1:c.1544G>C | NP_000079.2:p.Gly515Ala | |
| XM_005257058.3:c.1544G>C | XP_005257115.2:p.Gly515Ala | |
| XM_005257059.3:c.958-1726G>C | XP_005257116.2:n.958-1726G>C | |
| XM_011524341.1:c.1346G>C | XP_011522643.1:p.Gly449Ala | |
| XM_005257058.4:c.1544G>C | XP_005257115.2:p.Gly515Ala | |
| XM_005257059.4:c.958-1726G>C | XP_005257116.2:n.958-1726G>C | |
| NM_000088.4:c.1544G>C MANE Select | NP_000079.2:p.Gly515Ala |