Revel Score:
ENST00000337818
0.626
ENST00000216181 (MANE Select)
0.626
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36300203A>G , CM000684.2:g.36300203A>G | GRCh38 |
| NC_000022.10:g.36696249A>G , CM000684.1:g.36696249A>G | GRCh37 |
| NC_000022.9:g.35026195A>G | NCBI36 |
| NG_011884.2:g.92816T>C , LRG_567:g.92816T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685801.1:c.2963T>C | ENSP00000510688.1:p.Val988Ala | |
| ENST00000691109.1:n.3195T>C | ||
| ENST00000216181.11:c.2900T>C MANE Select | ENSP00000216181.6:p.Val967Ala | |
| ENST00000216181.9:c.2900T>C | ENSP00000216181.5:p.Val967Ala | |
| NM_002473.5:c.2900T>C , LRG_567t1:c.2900T>C | NP_002464.1:p.Val967Ala | |
| XM_011530197.1:c.2900T>C | XP_011528499.1:p.Val967Ala | |
| XM_011530197.2:c.2900T>C | XP_011528499.1:p.Val967Ala | |
| XM_017028803.1:c.2900T>C | XP_016884292.1:p.Val967Ala | |
| XM_017028804.1:c.2900T>C | XP_016884293.1:p.Val967Ala | |
| XM_017028805.1:c.2900T>C | XP_016884294.1:p.Val967Ala | |
| XM_017028806.1:c.2900T>C | XP_016884295.1:p.Val967Ala | |
| NM_002473.6:c.2900T>C MANE Select | NP_002464.1:p.Val967Ala |