Revel Score:
ENST00000299314 (MANE Select)
0.982
ENST00000549940
0.982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770085T>G , CM000674.2:g.101770085T>G | GRCh38 |
| NC_000012.11:g.102163863T>G , CM000674.1:g.102163863T>G | GRCh37 |
| NC_000012.10:g.100687994T>G | NCBI36 |
| NG_021243.1:g.65783A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1220A>C MANE Select | ENSP00000299314.7:p.Asp407Ala | |
| ENST00000299314.11:c.1220A>C | ENSP00000299314.7:p.Asp407Ala | |
| ENST00000549940.5:c.1220A>C | ENSP00000449150.1:p.Asp407Ala | |
| NM_024312.4:c.1220A>C | NP_077288.2:p.Asp407Ala | |
| XM_006719593.2:c.1220A>C | XP_006719656.1:p.Asp407Ala | |
| XM_011538731.1:c.1139A>C | XP_011537033.1:p.Asp380Ala | |
| XM_006719593.3:c.1220A>C | XP_006719656.1:p.Asp407Ala | |
| XM_011538731.2:c.1139A>C | XP_011537033.1:p.Asp380Ala | |
| XM_017019961.1:c.1004A>C | XP_016875450.1:p.Asp335Ala | |
| XM_017019962.2:c.-8A>C | XP_016875451.1:n.-8A>C | |
| NM_024312.5:c.1220A>C MANE Select | NP_077288.2:p.Asp407Ala |