Revel Score:
ENST00000356231 (MANE Select)
0.734
ENST00000267892
0.734
gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42726386T>G , CM000677.2:g.42726386T>G | GRCh38 |
| NC_000015.9:g.43018584T>G , CM000677.1:g.43018584T>G | GRCh37 |
| NC_000015.8:g.40805876T>G | NCBI36 |
| NG_012491.1:g.15834A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.3128A>C MANE Select | ENSP00000348564.3:p.Asp1043Ala | |
| ENST00000643434.1:c.*2259A>C | ENSP00000494699.1:n.*2259A>C | |
| ENST00000356231.3:c.3128A>C | ENSP00000348564.3:p.Asp1043Ala | |
| ENST00000562465.5:c.1074A>C | ENSP00000454246.1:n.1074A>C | |
| NM_138477.2:c.3128A>C | NP_612486.2:p.Asp1043Ala | |
| XM_005254176.3:c.3131A>C | XP_005254233.1:p.Asp1044Ala | |
| XM_011521270.1:c.3155A>C | XP_011519572.1:p.Asp1052Ala | |
| XM_011521271.1:c.3152A>C | XP_011519573.1:p.Asp1051Ala | |
| XM_011521272.1:c.3155A>C | XP_011519574.1:p.Asp1052Ala | |
| XM_011521273.1:c.*30A>C | XP_011519575.1:n.*30A>C | |
| XM_011521274.1:c.2120A>C | XP_011519576.1:p.Asp707Ala | |
| XM_011521275.1:c.2372A>C | XP_011519577.1:p.Asp791Ala | |
| NM_138477.4:c.3128A>C MANE Select | NP_612486.2:p.Asp1043Ala | |
| XM_005254176.5:c.3131A>C | XP_005254233.1:p.Asp1044Ala | |
| XM_011521270.2:c.3155A>C | XP_011519572.1:p.Asp1052Ala | |
| XM_011521271.2:c.3152A>C | XP_011519573.1:p.Asp1051Ala | |
| XM_011521274.2:c.2120A>C | XP_011519576.1:p.Asp707Ala | |
| XR_001751104.1:n.3185A>C | ||
| XR_001751105.1:n.3138A>C |