Revel Score:
ENST00000514220
0.006
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38259657 (AFR)
Genomes Max Group AF
0.37644523 (AFR)
Exomes Max Group AF
0.38676216 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7878079T>C , CM000667.2:g.7878079T>C | GRCh38 |
| NC_000005.9:g.7878192T>C , CM000667.1:g.7878192T>C | GRCh37 |
| NC_000005.8:g.7931192T>C | NCBI36 |
| NG_008856.1:g.13976T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.537T>C MANE Select | ENSP00000402510.2:p.Leu179= | |
| ENST00000264668.6:c.618T>C | ENSP00000264668.2:p.Leu206= | |
| ENST00000440940.6:c.537T>C | ENSP00000402510.2:p.Leu179= | |
| ENST00000510279.5:c.*206T>C | ENSP00000427200.1:n.*206T>C | |
| ENST00000510525.5:c.562T>C | ||
| ENST00000511461.5:c.450T>C | ||
| ENST00000513439.5:c.*244T>C | ENSP00000426710.1:n.*244T>C | |
| ENST00000514220.5:c.322T>C | ||
| ENST00000514369.5:c.*201T>C | ENSP00000426132.1:n.*201T>C | |
| NM_002454.2:c.537T>C | NP_002445.2:p.Leu179= | |
| NM_024010.2:c.618T>C | NP_076915.2:p.Leu206= | |
| XM_006714474.2:c.618T>C | XP_006714537.1:p.Leu206= | |
| XM_011514043.1:c.618T>C | XP_011512345.1:p.Leu206= | |
| XM_011514044.1:c.537T>C | XP_011512346.1:p.Leu179= | |
| XM_011514045.1:c.618T>C | XP_011512347.1:p.Leu206= | |
| XR_241702.1:n.640T>C | ||
| XR_241703.1:n.633T>C | ||
| XR_925614.1:n.640T>C | ||
| XR_925615.1:n.640T>C | ||
| NM_001364440.1:c.537T>C | NP_001351369.1:p.Leu179= | |
| NM_001364441.1:c.537T>C | NP_001351370.1:p.Leu179= | |
| NM_001364442.1:c.537T>C | NP_001351371.1:p.Leu179= | |
| NM_024010.3:c.537T>C | NP_076915.3:p.Leu179= | |
| NR_134480.1:n.660T>C | ||
| NR_134481.1:n.674T>C | ||
| NR_134482.1:n.520T>C | ||
| NR_157168.1:n.590T>C | ||
| NR_157169.1:n.450T>C | ||
| NR_157170.1:n.476T>C | ||
| NR_157171.1:n.450T>C | ||
| NR_157172.1:n.476T>C | ||
| NR_157173.1:n.604T>C | ||
| NR_157174.1:n.476T>C | ||
| NR_157175.1:n.630T>C | ||
| NR_157176.1:n.630T>C | ||
| NR_157177.1:n.625T>C | ||
| NR_157178.1:n.630T>C | ||
| XM_024446063.1:c.582T>C | XP_024301831.1:p.Leu194= | |
| XM_024446064.1:c.537T>C | XP_024301832.1:p.Leu179= | |
| XR_001742071.1:n.640T>C | ||
| XR_001742072.1:n.640T>C | ||
| XR_001742074.1:n.640T>C | ||
| XR_001742075.1:n.640T>C | ||
| XR_001742076.1:n.640T>C | ||
| XR_001742077.1:n.640T>C | ||
| NM_001364440.2:c.537T>C | NP_001351369.1:p.Leu179= | |
| NM_001364441.2:c.537T>C | NP_001351370.1:p.Leu179= | |
| NM_001364442.2:c.537T>C | NP_001351371.1:p.Leu179= | |
| NM_002454.3:c.537T>C MANE Select | NP_002445.2:p.Leu179= | |
| NM_024010.4:c.537T>C | NP_076915.3:p.Leu179= | |
| NR_134480.2:n.616T>C | ||
| NR_134481.2:n.630T>C | ||
| NR_134482.2:n.476T>C | ||
| NR_157168.2:n.590T>C | ||
| NR_157169.2:n.450T>C | ||
| NR_157170.2:n.476T>C | ||
| NR_157171.2:n.450T>C | ||
| NR_157172.2:n.476T>C | ||
| NR_157173.2:n.604T>C | ||
| NR_157174.2:n.476T>C | ||
| NR_157175.2:n.630T>C | ||
| NR_157176.2:n.630T>C | ||
| NR_157177.2:n.625T>C | ||
| NR_157178.2:n.630T>C |