Revel Score:
ENST00000261195 (MANE Select)
0.140
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21560468T>A , CM000674.2:g.21560468T>A | GRCh38 |
| NC_000012.11:g.21713402T>A , CM000674.1:g.21713402T>A | GRCh37 |
| NC_000012.10:g.21604669T>A | NCBI36 |
| NG_016167.1:g.49380A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261195.3:c.1087A>T MANE Select | ENSP00000261195.2:p.Met363Leu | |
| ENST00000647960.1:c.*1089A>T | ENSP00000497202.1:n.*1089A>T | |
| ENST00000648372.1:n.1014A>T | ||
| ENST00000261195.2:c.1087A>T | ENSP00000261195.2:p.Met363Leu | |
| NM_021957.3:c.1087A>T | NP_068776.2:p.Met363Leu | |
| XM_005253352.1:c.1087A>T | XP_005253409.1:p.Met363Leu | |
| XM_005253354.2:c.868A>T | XP_005253411.1:p.Met290Leu | |
| XM_006719062.2:c.1087A>T | XP_006719125.1:p.Met363Leu | |
| XM_006719063.2:c.856A>T | XP_006719126.1:p.Met286Leu | |
| NM_021957.4:c.1087A>T MANE Select | NP_068776.2:p.Met363Leu | |
| XM_006719063.3:c.856A>T | XP_006719126.1:p.Met286Leu | |
| XM_017019245.2:c.1087A>T | XP_016874734.1:p.Met363Leu | |
| XM_024448960.1:c.1087A>T | XP_024304728.1:p.Met363Leu |