Revel Score:
ENST00000342694 (MANE Select)
0.694
ENST00000447210
0.694
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35807333G>A , CM000671.2:g.35807333G>A | GRCh38 |
| NC_000009.11:g.35807330G>A , CM000671.1:g.35807330G>A | GRCh37 |
| NC_000009.10:g.35797330G>A | NCBI36 |
| NG_009249.1:g.19925G>A | |
| NG_047141.1:g.9940C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421267.6:c.687G>A | ||
| ENST00000448821.6:c.2647G>A | ENSP00000402902.2:p.Val883Met | |
| ENST00000685871.1:c.2575G>A | ENSP00000509964.1:p.Val859Met | |
| ENST00000686159.1:n.2686G>A | ||
| ENST00000686486.1:n.1817G>A | ||
| ENST00000687302.1:n.2761G>A | ||
| ENST00000687357.1:c.2500G>A | ENSP00000509549.1:p.Val834Met | |
| ENST00000687625.1:n.1802G>A | ||
| ENST00000687787.1:c.2806G>A | ENSP00000509440.1:p.Val936Met | |
| ENST00000688201.1:n.2604G>A | ||
| ENST00000688226.1:n.2579G>A | ||
| ENST00000688869.1:n.2953G>A | ||
| ENST00000689788.1:c.2441G>A | ENSP00000508973.1:n.2441G>A | |
| ENST00000689898.1:c.2504G>A | ENSP00000509651.1:n.2504G>A | |
| ENST00000690070.1:c.2731G>A | ENSP00000509654.1:p.Val911Met | |
| ENST00000690267.1:c.2436G>A | ENSP00000510432.1:n.2436G>A | |
| ENST00000690552.1:n.2992G>A | ||
| ENST00000691138.1:n.2920G>A | ||
| ENST00000691969.1:c.2147G>A | ENSP00000510244.1:n.2147G>A | |
| ENST00000692232.1:n.3962G>A | ||
| ENST00000692233.1:c.2511G>A | ENSP00000509698.1:n.2511G>A | |
| ENST00000692380.1:n.1802G>A | ||
| ENST00000692447.1:n.3763G>A | ||
| ENST00000693094.1:c.2737G>A | ENSP00000510161.1:p.Val913Met | |
| ENST00000342694.7:c.2647G>A MANE Select | ENSP00000341083.2:p.Val883Met | |
| ENST00000342694.6:c.2647G>A | ENSP00000341083.2:p.Val883Met | |
| ENST00000421267.5:c.687G>A | ||
| ENST00000447210.5:c.424G>A | ENSP00000393029.1:p.Val142Met | |
| ENST00000448821.5:c.134G>A | ||
| ENST00000464810.5:n.2647G>A | ||
| NM_003995.3:c.2647G>A | NP_003986.2:p.Val883Met | |
| XM_005251478.3:c.2656G>A | XP_005251535.1:p.Val886Met | |
| XM_005251479.3:c.1669G>A | XP_005251536.1:p.Val557Met | |
| XM_006716778.2:c.2584G>A | XP_006716841.1:p.Val862Met | |
| XM_011517889.1:c.1669G>A | XP_011516191.1:p.Val557Met | |
| XM_011517890.1:c.1669G>A | XP_011516192.1:p.Val557Met | |
| XM_011517891.1:c.1669G>A | XP_011516193.1:p.Val557Met | |
| XM_011517892.1:c.1669G>A | XP_011516194.1:p.Val557Met | |
| XM_011517893.1:c.1669G>A | XP_011516195.1:p.Val557Met | |
| XM_011517894.1:c.1669G>A | XP_011516196.1:p.Val557Met | |
| XM_011517895.1:c.1252G>A | XP_011516197.1:p.Val418Met | |
| XM_024447556.1:c.2815G>A | XP_024303324.1:p.Val939Met | |
| XM_024447557.1:c.2806G>A | XP_024303325.1:p.Val936Met | |
| XM_024447558.1:c.1828G>A | XP_024303326.1:p.Val610Met | |
| XM_024447559.1:c.1411G>A | XP_024303327.1:p.Val471Met | |
| XM_024447560.1:c.1402G>A | XP_024303328.1:p.Val468Met | |
| XM_024447561.1:c.1243G>A | XP_024303329.1:p.Val415Met | |
| NM_003995.4:c.2647G>A MANE Select | NP_003986.2:p.Val883Met | |
| NM_001378923.1:c.2656G>A | NP_001365852.1:p.Val886Met |