Revel Score:
ENST00000328300 (MANE Select)
0.612
ENST00000361603
0.612
ENST00000508186
0.612
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108440126A>G , CM000685.2:g.108440126A>G | GRCh38 |
| NC_000023.10:g.107683356A>G , CM000685.1:g.107683356A>G | GRCh37 |
| NC_000023.9:g.107570012A>G | NCBI36 |
| NG_011977.1:g.5203A>G | |
| NG_012059.2:g.4349T>C | |
| NG_011977.2:g.5203A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.1A>G MANE Select | ENSP00000331902.7:p.Met1Val | |
| ENST00000361603.7:c.1A>G | ENSP00000354505.2:p.Met1Val | |
| ENST00000642185.1:c.1A>G | ENSP00000495101.1:p.Met1Val | |
| ENST00000328300.10:c.1A>G | ENSP00000331902.6:p.Met1Val | |
| ENST00000361603.6:c.1A>G | ENSP00000354505.2:p.Met1Val | |
| ENST00000470339.1:n.185A>G | ||
| ENST00000477429.1:n.283A>G | ||
| NM_000495.4:c.1A>G | NP_000486.1:p.Met1Val | |
| NM_033380.2:c.1A>G | NP_203699.1:p.Met1Val | |
| XM_005262070.2:c.1A>G | XP_005262127.1:p.Met1Val | |
| XM_005262072.3:c.1A>G | XP_005262129.1:p.Met1Val | |
| XM_006724616.2:c.1A>G | XP_006724679.1:p.Met1Val | |
| XM_011530850.1:c.1A>G | XP_011529152.1:p.Met1Val | |
| NM_000495.5:c.1A>G | NP_000486.1:p.Met1Val | |
| NM_033380.3:c.1A>G MANE Select | NP_203699.1:p.Met1Val |