Revel Score:
ENST00000369244 (MANE Select)
0.261
ENST00000229971
0.261
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000954 (NFE)
Exomes Max Group AF
0.00001012 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98899281C>T , CM000668.2:g.98899281C>T | GRCh38 |
| NC_000006.11:g.99347157C>T , CM000668.1:g.99347157C>T | GRCh37 |
| NC_000006.10:g.99453878C>T | NCBI36 |
| NG_033903.1:g.53726G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1304G>A MANE Select | ENSP00000358247.1:p.Arg435Gln | |
| ENST00000229971.2:c.1304G>A | ENSP00000229971.1:p.Arg435Gln | |
| ENST00000369244.6:c.1304G>A | ENSP00000358247.1:p.Arg435Gln | |
| NM_001278716.1:c.1304G>A | NP_001265645.1:p.Arg435Gln | |
| NM_012160.4:c.1304G>A | NP_036292.2:p.Arg435Gln | |
| NR_103836.1:n.1349G>A | ||
| NR_103837.1:n.1349G>A | ||
| XM_005266930.1:c.1304G>A | XP_005266987.1:p.Arg435Gln | |
| XM_005266930.3:c.1304G>A | XP_005266987.1:p.Arg435Gln | |
| XM_017010726.1:c.1304G>A | XP_016866215.1:p.Arg435Gln | |
| XM_017010727.2:c.1304G>A | XP_016866216.1:p.Arg435Gln | |
| XM_017010728.1:c.578G>A | XP_016866217.1:p.Arg193Gln | |
| NM_001278716.2:c.1304G>A MANE Select | NP_001265645.1:p.Arg435Gln | |
| NR_103836.2:n.1289G>A | ||
| NR_103837.2:n.1289G>A | ||
| NM_012160.5:c.1304G>A | NP_036292.2:p.Arg435Gln |