Revel Score:
ENST00000220592 (MANE Select)
0.513
ENST00000519980
0.513
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.140532498C>T , CM000670.2:g.140532498C>T | GRCh38 |
| NC_000008.10:g.141542597C>T , CM000670.1:g.141542597C>T | GRCh37 |
| NC_000008.9:g.141611779C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220592.10:c.2389G>A MANE Select | ENSP00000220592.5:p.Val797Met | |
| ENST00000220592.9:c.2389G>A | ENSP00000220592.5:p.Val797Met | |
| ENST00000519980.5:c.2287G>A | ENSP00000430176.1:p.Val763Met | |
| ENST00000520628.1:n.209G>A | ||
| ENST00000523609.5:c.*1974G>A | ENSP00000430164.1:n.*1974G>A | |
| NM_001164623.1:c.2287G>A | NP_001158095.1:p.Val763Met | |
| NM_012154.3:c.2389G>A | NP_036286.2:p.Val797Met | |
| XM_011516964.1:c.2476G>A | XP_011515266.1:p.Val826Met | |
| XM_011516965.1:c.2431G>A | XP_011515267.1:p.Val811Met | |
| XM_011516966.1:c.2251G>A | XP_011515268.1:p.Val751Met | |
| XM_011516967.1:c.2158G>A | XP_011515269.1:p.Val720Met | |
| XM_011516968.1:c.2251G>A | XP_011515270.1:p.Val751Met | |
| NM_001164623.2:c.2287G>A | NP_001158095.1:p.Val763Met | |
| NM_012154.4:c.2389G>A | NP_036286.2:p.Val797Met | |
| XM_011516965.2:c.2431G>A | XP_011515267.1:p.Val811Met | |
| XM_011516966.3:c.2251G>A | XP_011515268.1:p.Val751Met | |
| XM_011516968.2:c.2566G>A | XP_011515270.2:p.Val856Met | |
| XM_017013317.2:c.2158G>A | XP_016868806.1:p.Val720Met | |
| NM_012154.5:c.2389G>A MANE Select | NP_036286.2:p.Val797Met | |
| NM_001164623.3:c.2287G>A | NP_001158095.1:p.Val763Met |