Revel Score:
ENST00000303115 (MANE Select)
0.739
ENST00000343305
0.739
ENST00000506850
0.739
ENST00000505093
0.739
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35873586G>T , CM000667.2:g.35873586G>T | GRCh38 |
| NC_000005.9:g.35873688G>T , CM000667.1:g.35873688G>T | GRCh37 |
| NC_000005.8:g.35909445G>T | NCBI36 |
| NG_009567.1:g.21698G>T , LRG_74:g.21698G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.644G>T MANE Select | ENSP00000306157.3:p.Gly215Val | |
| ENST00000303115.7:c.644G>T | ENSP00000306157.3:p.Gly215Val | |
| ENST00000505093.1:c.53G>T | ENSP00000426069.1:p.Gly18Val | |
| ENST00000506850.5:c.644G>T | ENSP00000421207.1:p.Gly215Val | |
| ENST00000509668.1:n.386G>T | ||
| ENST00000514217.5:c.538-1926G>T | ENSP00000427688.1:n.538-1926G>T | |
| NM_002185.3:c.644G>T | NP_002176.2:p.Gly215Val | |
| NR_120485.1:n.641-1926G>T | ||
| XM_005248299.2:c.644G>T | XP_005248356.1:p.Gly215Val | |
| XM_005248300.1:c.644G>T | XP_005248357.1:p.Gly215Val | |
| XM_011514037.1:c.644G>T | XP_011512339.1:p.Gly215Val | |
| NM_002185.4:c.644G>T | NP_002176.2:p.Gly215Val | |
| NR_120485.2:n.667-1926G>T | ||
| XM_005248299.4:c.644G>T | XP_005248356.1:p.Gly215Val | |
| NM_002185.5:c.644G>T MANE Select | NP_002176.2:p.Gly215Val | |
| NR_120485.3:n.625-1926G>T |