Revel Score:
ENST00000457854
0.613
ENST00000222214 (MANE Select)
0.613
ENST00000422947
0.613
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00051918 (AFR)
Genomes Max Group AF
0.00035824 (AFR)
Exomes Max Group AF
0.0005939 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12897833A>G , CM000681.2:g.12897833A>G | GRCh38 |
| NC_000019.9:g.13008647A>G , CM000681.1:g.13008647A>G | GRCh37 |
| NC_000019.8:g.12869647A>G | NCBI36 |
| NG_009292.1:g.11674A>G | |
| NG_033049.1:g.26440T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.1213A>G MANE Select | ENSP00000222214.4:p.Met405Val | |
| ENST00000222214.9:c.1213A>G | ENSP00000222214.4:p.Met405Val | |
| ENST00000585420.5:n.1543A>G | ||
| ENST00000590472.5:c.257A>G | ||
| ENST00000590530.5:c.*653A>G | ENSP00000468452.1:n.*653A>G | |
| ENST00000591043.1:n.1523A>G | ||
| ENST00000591050.1:c.180A>G | ||
| ENST00000591470.5:c.1213A>G | ENSP00000466845.1:p.Met405Val | |
| NM_000159.3:c.1213A>G | NP_000150.1:p.Met405Val | |
| NM_013976.3:c.1213A>G | NP_039663.1:p.Met405Val | |
| NR_102316.1:n.1376A>G | ||
| NR_102317.1:n.1594A>G | ||
| XM_006722721.2:c.1213A>G | XP_006722784.1:p.Met405Val | |
| XM_011527899.1:c.1213A>G | XP_011526201.1:p.Met405Val | |
| XM_011527900.1:c.1213A>G | XP_011526202.1:p.Met405Val | |
| XM_011527899.2:c.1213A>G | XP_011526201.1:p.Met405Val | |
| XM_011527900.2:c.1213A>G | XP_011526202.1:p.Met405Val | |
| XM_017026580.1:c.1213A>G | XP_016882069.1:p.Met405Val | |
| NM_000159.4:c.1213A>G MANE Select | NP_000150.1:p.Met405Val | |
| NM_013976.4:c.1213A>G | NP_039663.1:p.Met405Val | |
| NM_013976.5:c.1213A>G | NP_039663.1:p.Met405Val |