Revel Score:
ENST00000259008 (MANE Select)
0.038
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002234 (NFE)
Exomes Max Group AF
0.00002285 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61684111T>C , CM000679.2:g.61684111T>C | GRCh38 |
| NC_000017.10:g.59761472T>C , CM000679.1:g.59761472T>C | GRCh37 |
| NC_000017.9:g.57116254T>C | NCBI36 |
| NG_007409.2:g.184449A>G , LRG_300:g.184449A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1675A>G | ||
| ENST00000682453.1:c.2935A>G | ENSP00000506943.1:p.Lys979Glu | |
| ENST00000682477.1:c.*2361A>G | ENSP00000507075.1:n.*2361A>G | |
| ENST00000682589.1:n.8812A>G | ||
| ENST00000682755.1:c.2713A>G | ENSP00000507660.1:p.Lys905Glu | |
| ENST00000682989.1:c.*26A>G | ENSP00000507786.1:n.*26A>G | |
| ENST00000683039.1:c.2935A>G | ENSP00000508303.1:p.Lys979Glu | |
| ENST00000683235.1:c.*350A>G | ENSP00000507646.1:n.*350A>G | |
| ENST00000683535.1:n.1065A>G | ||
| ENST00000684584.1:c.2098A>G | ENSP00000508044.1:p.Lys700Glu | |
| ENST00000684626.1:n.1181A>G | ||
| ENST00000684769.1:c.1125A>G | ENSP00000507691.1:n.1125A>G | |
| ENST00000259008.7:c.2935A>G MANE Select | ENSP00000259008.2:p.Lys979Glu | |
| ENST00000259008.6:c.2935A>G | ENSP00000259008.2:p.Lys979Glu | |
| NM_032043.2:c.2935A>G , LRG_300t1:c.2935A>G | NP_114432.2:p.Lys979Glu | |
| XM_011525332.1:c.2995A>G | XP_011523634.1:p.Lys999Glu | |
| XM_011525333.1:c.2995A>G | XP_011523635.1:p.Lys999Glu | |
| XM_011525334.1:c.2995A>G | XP_011523636.1:p.Lys999Glu | |
| XM_011525335.1:c.2935A>G | XP_011523637.1:p.Lys979Glu | |
| XM_011525336.1:c.2875A>G | XP_011523638.1:p.Lys959Glu | |
| XM_011525337.1:c.2794A>G | XP_011523639.1:p.Lys932Glu | |
| XM_011525338.1:c.2512A>G | XP_011523640.1:p.Lys838Glu | |
| XM_011525332.3:c.2995A>G | XP_011523634.1:p.Lys999Glu | |
| XM_011525333.3:c.2995A>G | XP_011523635.1:p.Lys999Glu | |
| XM_011525334.2:c.2995A>G | XP_011523636.1:p.Lys999Glu | |
| XM_011525335.3:c.2935A>G | XP_011523637.1:p.Lys979Glu | |
| XM_011525336.2:c.2875A>G | XP_011523638.1:p.Lys959Glu | |
| XM_011525337.2:c.2794A>G | XP_011523639.1:p.Lys932Glu | |
| XM_011525338.2:c.2512A>G | XP_011523640.1:p.Lys838Glu | |
| XM_017025200.1:c.2452A>G | XP_016880689.1:p.Lys818Glu | |
| XM_017025201.1:c.2452A>G | XP_016880690.1:p.Lys818Glu | |
| XM_017025202.1:c.1081A>G | XP_016880691.1:p.Lys361Glu | |
| XM_017025203.1:c.1081A>G | XP_016880692.1:p.Lys361Glu | |
| NM_032043.3:c.2935A>G MANE Select | NP_114432.2:p.Lys979Glu |