Revel Score:
ENST00000331113 (MANE Select)
0.844
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120275594C>T , CM000669.2:g.120275594C>T | GRCh38 |
| NC_000007.13:g.119915648C>T , CM000669.1:g.119915648C>T | GRCh37 |
| NC_000007.12:g.119702884C>T | NCBI36 |
| NG_034230.1:g.6927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331113.9:c.962C>T MANE Select | ENSP00000333496.4:p.Ala321Val | |
| ENST00000331113.8:c.962C>T | ENSP00000333496.4:p.Ala321Val | |
| NM_012281.2:c.962C>T | NP_036413.1:p.Ala321Val | |
| XM_005250322.2:c.962C>T | XP_005250379.1:p.Ala321Val | |
| XM_011516165.1:c.962C>T | XP_011514467.1:p.Ala321Val | |
| XM_011516166.1:c.962C>T | XP_011514468.1:p.Ala321Val | |
| XM_011516167.1:c.962C>T | XP_011514469.1:p.Ala321Val | |
| XM_011516165.3:c.962C>T | XP_011514467.1:p.Ala321Val | |
| NM_012281.3:c.962C>T MANE Select | NP_036413.1:p.Ala321Val |