Revel Score:
ENST00000288710 (MANE Select)
0.067
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26455141A>T , CM000664.2:g.26455141A>T | GRCh38 |
| NC_000002.11:g.26678009A>T , CM000664.1:g.26678009A>T | GRCh37 |
| NC_000002.10:g.26531513A>T | NCBI36 |
| NG_042824.1:g.58230A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.2074A>T MANE Select | ENSP00000288710.2:p.Thr692Ser | |
| ENST00000649059.1:c.1920A>T | ||
| ENST00000288710.6:c.2074A>T | ENSP00000288710.2:p.Thr692Ser | |
| NM_145038.3:c.2074A>T | NP_659475.2:p.Thr692Ser | |
| NM_145038.4:c.2074A>T | NP_659475.2:p.Thr692Ser | |
| XM_005264637.3:c.1456A>T | XP_005264694.1:p.Thr486Ser | |
| XM_005264638.3:c.1054A>T | XP_005264695.1:p.Thr352Ser | |
| XM_017005271.1:c.1054A>T | XP_016860760.1:p.Thr352Ser | |
| XM_024453218.1:c.1054A>T | XP_024308986.1:p.Thr352Ser | |
| NM_145038.5:c.2074A>T MANE Select | NP_659475.2:p.Thr692Ser |