Revel Score:
ENST00000522566
0.210
ENST00000358755 (MANE Select)
0.210
ENST00000523739
0.210
ENST00000540287
0.210
ENST00000539487
0.210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.103325139A>T , CM000670.2:g.103325139A>T | GRCh38 |
| NC_000008.10:g.104337367A>T , CM000670.1:g.104337367A>T | GRCh37 |
| NC_000008.9:g.104406543A>T | NCBI36 |
| NG_028909.1:g.31707A>T | |
| NG_028909.2:g.29146A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358755.5:c.1033A>T MANE Select | ENSP00000351605.4:p.Met345Leu | |
| ENST00000358755.4:c.1033A>T | ENSP00000351605.4:p.Met345Leu | |
| ENST00000519011.5:c.*80A>T | ENSP00000427733.1:n.*80A>T | |
| ENST00000521195.1:c.*968A>T | ENSP00000428188.1:n.*968A>T | |
| ENST00000522484.5:c.1033A>T | ENSP00000428301.1:p.Met345Leu | |
| ENST00000522566.5:c.1033A>T | ENSP00000429055.1:p.Met345Leu | |
| ENST00000523739.5:c.937A>T | ENSP00000429528.1:p.Met313Leu | |
| ENST00000523933.5:c.*80A>T | ENSP00000428257.1:n.*80A>T | |
| NM_001164615.1:c.1033A>T | NP_001158087.1:p.Met345Leu | |
| NM_001164616.1:c.937A>T | NP_001158088.1:p.Met313Leu | |
| NM_003506.3:c.1033A>T | NP_003497.2:p.Met345Leu | |
| XR_428385.2:n.1283A>T | ||
| NM_001317796.1:c.118A>T | NP_001304725.1:p.Met40Leu | |
| NR_133921.1:n.1350A>T | ||
| NM_003506.4:c.1033A>T MANE Select | NP_003497.2:p.Met345Leu | |
| NM_001164615.2:c.1033A>T | NP_001158087.1:p.Met345Leu | |
| NM_001164616.2:c.937A>T | NP_001158088.1:p.Met313Leu | |
| NM_001317796.2:c.118A>T | NP_001304725.1:p.Met40Leu | |
| NR_133921.2:n.1350A>T |