Revel Score:
ENST00000269228 (MANE Select)
0.864
ENST00000412552
0.864
ENST00000540608
0.864
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002112 (NFE)
Genomes Max Group AF
0.00011228 (NFE)
Exomes Max Group AF
0.00021254 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23539985T>A , CM000680.2:g.23539985T>A | GRCh38 |
| NC_000018.9:g.21119949T>A , CM000680.1:g.21119949T>A | GRCh37 |
| NC_000018.8:g.19373947T>A | NCBI36 |
| NG_012795.1:g.51633A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.2621A>T MANE Select | ENSP00000269228.4:p.Asp874Val | |
| ENST00000269228.9:c.2621A>T | ENSP00000269228.4:p.Asp874Val | |
| ENST00000540608.5:n.2535A>T | ||
| ENST00000586718.1:n.412A>T | ||
| ENST00000591051.1:c.1699A>T | ||
| NM_000271.4:c.2621A>T | NP_000262.2:p.Asp874Val | |
| XM_005258277.1:c.2672A>T | XP_005258334.1:p.Asp891Val | |
| XM_005258278.3:c.2672A>T | XP_005258335.1:p.Asp891Val | |
| XM_005258279.1:c.2621A>T | XP_005258336.1:p.Asp874Val | |
| XM_006722479.2:c.2672A>T | XP_006722542.1:p.Asp891Val | |
| XM_011526015.1:c.2207A>T | XP_011524317.1:p.Asp736Val | |
| XM_005258278.5:c.2672A>T | XP_005258335.1:p.Asp891Val | |
| XM_005258279.2:c.2621A>T | XP_005258336.1:p.Asp874Val | |
| XM_006722479.3:c.2672A>T | XP_006722542.1:p.Asp891Val | |
| XM_017025784.1:c.2672A>T | XP_016881273.1:p.Asp891Val | |
| XM_017025785.1:c.2672A>T | XP_016881274.1:p.Asp891Val | |
| XM_017025786.1:c.2621A>T | XP_016881275.1:p.Asp874Val | |
| XM_017025787.1:c.2621A>T | XP_016881276.1:p.Asp874Val | |
| NM_000271.5:c.2621A>T MANE Select | NP_000262.2:p.Asp874Val |