Revel Score:
ENST00000504142
0.100
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00161692 (AMR)
Genomes Max Group AF
0.00163622 (AMR)
Exomes Max Group AF
0.00147336 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90629476C>A , CM000667.2:g.90629476C>A | GRCh38 |
| NC_000005.9:g.89925293C>A , CM000667.1:g.89925293C>A | GRCh37 |
| NC_000005.8:g.89961049C>A | NCBI36 |
| NG_007083.1:g.75677C>A | |
| NG_007083.2:g.105133C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.1776C>A MANE Select | ENSP00000384582.2:p.Val592= | |
| ENST00000504142.2:n.542C>A | ||
| ENST00000640109.1:n.1872C>A | ||
| ENST00000405460.6:c.1776C>A | ENSP00000384582.2:p.Val592= | |
| ENST00000504142.1:c.541C>A | ||
| NM_032119.3:c.1776C>A | NP_115495.3:p.Val592= | |
| NR_003149.1:n.1872C>A | ||
| XM_011543675.1:c.1776C>A | XP_011541977.1:p.Val592= | |
| XM_011543676.1:c.1776C>A | XP_011541978.1:p.Val592= | |
| XM_011543678.1:c.1776C>A | XP_011541980.1:p.Val592= | |
| XM_011543679.1:c.1776C>A | XP_011541981.1:p.Val592= | |
| NM_032119.4:c.1776C>A MANE Select | NP_115495.3:p.Val592= | |
| XM_017009963.2:c.1776C>A | XP_016865452.1:p.Val592= | |
| XM_017009964.2:c.1776C>A | XP_016865453.1:p.Val592= | |
| XM_017009965.1:c.1773C>A | XP_016865454.1:p.Val591= | |
| XM_017009966.2:c.1776C>A | XP_016865455.1:p.Val592= | |
| XM_017009967.1:c.1680C>A | XP_016865456.1:p.Val560= | |
| XM_017009968.2:c.1776C>A | XP_016865457.1:p.Val592= | |
| XM_017009969.2:c.1776C>A | XP_016865458.1:p.Val592= | |
| XM_017009970.2:c.1776C>A | XP_016865459.1:p.Val592= | |
| XM_017009971.2:c.1776C>A | XP_016865460.1:p.Val592= | |
| XM_017009974.2:c.1776C>A | XP_016865463.1:p.Val592= | |
| NR_003149.2:n.1875C>A |