Revel Score:
ENST00000456958
0.599
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00043558 (MID)
Exomes Max Group AF
0.00045879 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7629836G>C , CM000681.2:g.7629836G>C | GRCh38 |
| NC_000019.9:g.7694722G>C , CM000681.1:g.7694722G>C | GRCh37 |
| NC_000019.8:g.7600722G>C | NCBI36 |
| NG_034117.1:g.5052G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595866.2:c.3G>C | ENSP00000469553.2:p.Met1Ile | |
| ENST00000698367.1:n.37G>C | ||
| ENST00000698368.1:c.3G>C | ENSP00000513686.1:p.Met1Ile | |
| ENST00000698396.1:c.3G>C | ENSP00000513691.1:p.Met1Ile | |
| ENST00000698397.1:c.3G>C | ENSP00000513692.1:p.Met1Ile | |
| ENST00000594797.6:c.3G>C MANE Select | ENSP00000470539.1:p.Met1Ile | |
| ENST00000456958.7:c.3G>C | ENSP00000392303.3:p.Met1Ile | |
| ENST00000594797.5:c.3G>C | ENSP00000470539.1:p.Met1Ile | |
| ENST00000595866.1:c.1G>C | ||
| ENST00000598664.5:c.3G>C | ENSP00000472796.1:p.Met1Ile | |
| ENST00000599243.5:c.3G>C | ENSP00000470078.1:p.Met1Ile | |
| ENST00000601406.5:c.3G>C | ENSP00000470935.1:p.Met1Ile | |
| ENST00000601829.1:n.13G>C | ||
| ENST00000623154.1:n.28G>C | ||
| NM_001171155.1:c.3G>C | NP_001164626.1:p.Met1Ile | |
| NR_033242.1:n.52G>C | ||
| NM_001171155.2:c.3G>C MANE Select | NP_001164626.1:p.Met1Ile | |
| NR_033242.2:n.44G>C |