Revel Score:
ENST00000262948 (MANE Select)
0.401
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014086 (AMR)
Genomes Max Group AF
0.00008873 (AMR)
Exomes Max Group AF
0.00012058 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117448T>C , CM000681.2:g.4117448T>C | GRCh38 |
| NC_000019.9:g.4117446T>C , CM000681.1:g.4117446T>C | GRCh37 |
| NC_000019.8:g.4068446T>C | NCBI36 |
| NG_007996.1:g.11681A>G , LRG_750:g.11681A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.713A>G | ||
| ENST00000687128.1:n.713A>G | ||
| ENST00000262948.10:c.274A>G MANE Select | ENSP00000262948.4:p.Arg92Gly | |
| ENST00000262948.9:c.274A>G | ENSP00000262948.3:p.Arg92Gly | |
| ENST00000394867.8:c.-18A>G | ENSP00000378336.1:n.-18A>G | |
| ENST00000599345.1:n.471A>G | ||
| NM_030662.3:c.274A>G , LRG_750t1:c.274A>G | NP_109587.1:p.Arg92Gly | |
| XM_006722799.2:c.274A>G | XP_006722862.1:p.Arg92Gly | |
| XM_017026989.1:c.274A>G | XP_016882478.1:p.Arg92Gly | |
| XM_017026990.1:c.274A>G | XP_016882479.1:p.Arg92Gly | |
| XM_017026991.1:c.274A>G | XP_016882480.1:p.Arg92Gly | |
| NM_030662.4:c.274A>G MANE Select | NP_109587.1:p.Arg92Gly |