Revel Score:
ENST00000262367 (MANE Select)
0.995
ENST00000543883
0.995
ENST00000382070
0.995
ENST00000323508
0.995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736765T>C , CM000678.2:g.3736765T>C | GRCh38 |
| NC_000016.9:g.3786766T>C , CM000678.1:g.3786766T>C | GRCh37 |
| NC_000016.8:g.3726767T>C | NCBI36 |
| NG_009873.1:g.148356A>G | |
| NG_009873.2:g.148949A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4445A>G MANE Select | ENSP00000262367.5:p.Tyr1482Cys | |
| ENST00000262367.9:c.4445A>G | ENSP00000262367.5:p.Tyr1482Cys | |
| ENST00000382070.7:c.4331A>G | ENSP00000371502.3:p.Tyr1444Cys | |
| ENST00000570939.2:c.3080A>G | ENSP00000461002.2:p.Tyr1027Cys | |
| ENST00000571763.5:n.235A>G | ||
| ENST00000574740.1:n.266A>G | ||
| ENST00000576720.1:n.3268A>G | ||
| NM_001079846.1:c.4331A>G | NP_001073315.1:p.Tyr1444Cys | |
| NM_004380.2:c.4445A>G | NP_004371.2:p.Tyr1482Cys | |
| XM_005255124.3:c.4400A>G | XP_005255181.1:p.Tyr1467Cys | |
| XM_005255125.3:c.4028A>G | XP_005255182.1:p.Tyr1343Cys | |
| XM_006720848.2:c.4184A>G | XP_006720911.1:p.Tyr1395Cys | |
| XM_011522380.1:c.4391A>G | XP_011520682.1:p.Tyr1464Cys | |
| XM_011522381.1:c.3692A>G | XP_011520683.1:p.Tyr1231Cys | |
| XM_005255124.4:c.4400A>G | XP_005255181.1:p.Tyr1467Cys | |
| XM_005255125.4:c.4028A>G | XP_005255182.1:p.Tyr1343Cys | |
| XM_006720848.3:c.4184A>G | XP_006720911.1:p.Tyr1395Cys | |
| XM_011522381.2:c.3692A>G | XP_011520683.1:p.Tyr1231Cys | |
| XM_017022944.1:c.4439A>G | XP_016878433.1:p.Tyr1480Cys | |
| NM_004380.3:c.4445A>G MANE Select | NP_004371.2:p.Tyr1482Cys |