Revel Score:
ENST00000224764
0.532
ENST00000372037 (MANE Select)
0.532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86876019A>C , CM000672.2:g.86876019A>C | GRCh38 |
| NC_000010.10:g.88635776A>C , CM000672.1:g.88635776A>C | GRCh37 |
| NC_000010.9:g.88625756A>C | NCBI36 |
| NG_009362.1:g.124381A>C , LRG_298:g.124381A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.1A>C | ENSP00000483569.2:p.Met1Leu | |
| ENST00000635816.2:c.1A>C | ENSP00000489707.1:p.Met1Leu | |
| ENST00000636056.2:c.1A>C | ENSP00000490273.1:p.Met1Leu | |
| ENST00000372037.8:c.1A>C MANE Select | ENSP00000361107.2:p.Met1Leu | |
| ENST00000635816.1:c.1A>C | ENSP00000489707.1:p.Met1Leu | |
| ENST00000636056.1:c.1A>C | ENSP00000490273.1:p.Met1Leu | |
| ENST00000638429.1:c.1A>C | ENSP00000492290.1:p.Met1Leu | |
| ENST00000372037.7:c.1A>C | ENSP00000361107.1:p.Met1Leu | |
| ENST00000480152.2:c.1A>C | ENSP00000483569.1:p.Met1Leu | |
| NM_004329.2:c.1A>C , LRG_298t1:c.1A>C | NP_004320.2:p.Met1Leu | |
| XM_011540103.1:c.1A>C | XP_011538405.1:p.Met1Leu | |
| XM_011540104.1:c.1A>C | XP_011538406.1:p.Met1Leu | |
| XM_011540103.2:c.1A>C | XP_011538405.1:p.Met1Leu | |
| XM_011540104.2:c.1A>C | XP_011538406.1:p.Met1Leu | |
| NM_004329.3:c.1A>C MANE Select | NP_004320.2:p.Met1Leu |