Revel Score:
ENST00000375715
0.579
ENST00000375708 (MANE Select)
0.579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726701A>G , CM000671.2:g.91726701A>G | GRCh38 |
| NC_000009.11:g.94488983A>G , CM000671.1:g.94488983A>G | GRCh37 |
| NC_000009.10:g.93528804A>G | NCBI36 |
| NG_008089.1:g.228462T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1226T>C MANE Select | ENSP00000364860.3:p.Val409Ala | |
| ENST00000375708.3:c.1226T>C | ENSP00000364860.3:p.Val409Ala | |
| ENST00000375715.5:c.806T>C | ENSP00000364867.1:p.Val269Ala | |
| ENST00000550066.5:n.1694T>C | ||
| NM_004560.3:c.1226T>C | NP_004551.2:p.Val409Ala | |
| XM_005252008.3:c.806T>C | XP_005252065.1:p.Val269Ala | |
| XM_005252009.3:c.23T>C | XP_005252066.1:p.Val8Ala | |
| XM_006717121.2:c.806T>C | XP_006717184.1:p.Val269Ala | |
| XM_011518721.1:c.806T>C | XP_011517023.1:p.Val269Ala | |
| NM_001318204.1:c.1192T>C | NP_001305133.1:p.Ser398Pro | |
| XM_005252008.4:c.806T>C | XP_005252065.1:p.Val269Ala | |
| XM_006717121.3:c.806T>C | XP_006717184.1:p.Val269Ala | |
| XM_017014762.1:c.1217T>C | XP_016870251.1:p.Val406Ala | |
| XM_017014763.1:c.806T>C | XP_016870252.1:p.Val269Ala | |
| XR_001746315.1:n.1435T>C | ||
| NM_004560.4:c.1226T>C MANE Select | NP_004551.2:p.Val409Ala | |
| NM_001318204.2:c.1192T>C | NP_001305133.1:p.Ser398Pro |