Revel Score:
ENST00000265104 (MANE Select)
0.627
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011561 (NFE)
Genomes Max Group AF
0.0001587 (NFE)
Exomes Max Group AF
0.00010833 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13820439C>T , CM000667.2:g.13820439C>T | GRCh38 |
| NC_000005.9:g.13820548C>T , CM000667.1:g.13820548C>T | GRCh37 |
| NC_000005.8:g.13873548C>T | NCBI36 |
| NG_013081.1:g.129042G>A | |
| NG_013081.2:g.129042G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683090.1:n.1679G>A | ||
| ENST00000265104.5:c.6748G>A MANE Select | ENSP00000265104.4:p.Glu2250Lys | |
| ENST00000681290.1:c.6703G>A | ENSP00000505288.1:p.Glu2235Lys | |
| ENST00000265104.4:c.6748G>A | ENSP00000265104.4:p.Glu2250Lys | |
| NM_001369.2:c.6748G>A | NP_001360.1:p.Glu2250Lys | |
| XM_005248262.2:c.6703G>A | XP_005248319.1:p.Glu2235Lys | |
| XM_011513990.1:c.6748G>A | XP_011512292.1:p.Glu2250Lys | |
| XR_925598.1:n.6955G>A | ||
| XM_005248262.3:c.6856G>A | XP_005248319.2:p.Glu2286Lys | |
| XM_017009177.1:c.6856G>A | XP_016864666.1:p.Glu2286Lys | |
| XM_017009178.1:c.5761G>A | XP_016864667.1:p.Glu1921Lys | |
| XM_017009179.2:c.5761G>A | XP_016864668.1:p.Glu1921Lys | |
| XM_017009180.1:c.6856G>A | XP_016864669.1:p.Glu2286Lys | |
| XM_017009181.1:c.6856G>A | XP_016864670.1:p.Glu2286Lys | |
| XM_017009182.1:c.6856G>A | XP_016864671.1:p.Glu2286Lys | |
| XM_017009183.1:c.6856G>A | XP_016864672.1:p.Glu2286Lys | |
| XM_017009184.1:c.6856G>A | XP_016864673.1:p.Glu2286Lys | |
| XM_017009185.1:c.1945G>A | XP_016864674.1:p.Glu649Lys | |
| XM_017009186.1:c.1498G>A | XP_016864675.1:p.Glu500Lys | |
| XM_017009187.1:c.6856G>A | XP_016864676.1:p.Glu2286Lys | |
| XM_017009188.1:c.835G>A | XP_016864677.1:p.Glu279Lys | |
| XM_024454388.1:c.5761G>A | XP_024310156.1:p.Glu1921Lys | |
| XM_024454389.1:c.5350G>A | XP_024310157.1:p.Glu1784Lys | |
| XR_001742034.1:n.6873G>A | ||
| XR_001742035.1:n.6873G>A | ||
| NM_001369.3:c.6748G>A MANE Select | NP_001360.1:p.Glu2250Lys |