Revel Score:
ENST00000515425 (MANE Select)
0.448
ENST00000512049
0.448
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000746 (EAS)
Exomes Max Group AF
0.00000844 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149063022T>C , CM000667.2:g.149063022T>C | GRCh38 |
| NC_000005.9:g.148442585T>C , CM000667.1:g.148442585T>C | GRCh37 |
| NC_000005.8:g.148422778T>C | NCBI36 |
| NG_007947.2:g.5153A>G , LRG_269:g.5153A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.1A>G MANE Select | ENSP00000423660.1:p.Met1Val | |
| ENST00000674983.1:c.1A>G | ENSP00000502387.1:p.Met1Val | |
| ENST00000675793.1:c.1A>G | ENSP00000502039.1:p.Met1Val | |
| ENST00000676056.1:c.1A>G | ENSP00000501827.1:p.Met1Val | |
| ENST00000323829.9:c.1A>G | ENSP00000313025.5:p.Met1Val | |
| ENST00000504091.1:n.37A>G | ||
| ENST00000504690.5:c.1A>G | ENSP00000425627.1:p.Met1Val | |
| ENST00000511307.5:c.1A>G | ENSP00000421420.1:p.Met1Val | |
| ENST00000511949.5:n.41A>G | ||
| ENST00000512049.5:c.1A>G | ENSP00000421860.1:p.Met1Val | |
| ENST00000513604.5:c.1A>G | ENSP00000423111.1:p.Met1Val | |
| ENST00000515425.5:c.1A>G | ENSP00000423660.1:p.Met1Val | |
| NM_024577.3:c.1A>G , LRG_269t1:c.1A>G | NP_078853.2:p.Met1Val | |
| NM_024577.4:c.1A>G MANE Select | NP_078853.2:p.Met1Val |