COSMIC:
COSM3739295 (not active)
Revel Score:
ENST00000409709 (MANE Select)
0.240
ENST00000458637
0.240
ENST00000409619
0.240
ENST00000545136
0.240
ENST00000358342
0.240
ENST00000343356
0.240
ENST00000341717
0.240
ENST00000458169
0.240
ENST00000544424
0.240
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69480648 (AFR)
Genomes Max Group AF
0.68970616 (AFR)
Exomes Max Group AF
0.69651941 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77208433C>A , CM000673.2:g.77208433C>A | GRCh38 |
| NC_000011.9:g.76919478C>A , CM000673.1:g.76919478C>A | GRCh37 |
| NC_000011.8:g.76597126C>A | NCBI36 |
| NG_009086.1:g.85169C>A | |
| NG_009086.2:g.85188C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5860C>A MANE Select | ENSP00000386331.3:p.Leu1954Ile | |
| ENST00000670577.1:c.3687C>A | ||
| ENST00000409619.6:c.5713C>A | ENSP00000386635.2:p.Leu1905Ile | |
| ENST00000409709.7:c.5860C>A | ENSP00000386331.3:p.Leu1954Ile | |
| ENST00000458169.2:c.3286C>A | ENSP00000417017.2:p.Leu1096Ile | |
| ENST00000458637.6:c.5746C>A | ENSP00000392185.2:p.Leu1916Ile | |
| ENST00000481328.7:n.3396C>A | ||
| ENST00000605744.1:n.774C>A | ||
| NM_000260.3:c.5860C>A | NP_000251.3:p.Leu1954Ile | |
| NM_001127180.1:c.5746C>A | NP_001120652.1:p.Leu1916Ile | |
| XM_005274012.2:c.5743C>A | XP_005274069.1:p.Leu1915Ile | |
| XM_006718558.2:c.5851C>A | XP_006718621.1:p.Leu1951Ile | |
| XM_006718559.2:c.5746C>A | XP_006718622.1:p.Leu1916Ile | |
| XM_006718560.2:c.5743C>A | XP_006718623.1:p.Leu1915Ile | |
| XM_006718561.2:c.5746C>A | XP_006718624.1:p.Leu1916Ile | |
| XM_011545044.1:c.5860C>A | XP_011543346.1:p.Leu1954Ile | |
| XM_011545045.1:c.5854C>A | XP_011543347.1:p.Leu1952Ile | |
| XM_011545046.1:c.5827C>A | XP_011543348.1:p.Leu1943Ile | |
| XM_011545047.1:c.5764C>A | XP_011543349.1:p.Leu1922Ile | |
| XM_011545048.1:c.5635C>A | XP_011543350.1:p.Leu1879Ile | |
| XM_011545049.1:c.5623C>A | XP_011543351.1:p.Leu1875Ile | |
| XM_011545050.1:c.5596C>A | XP_011543352.1:p.Leu1866Ile | |
| XM_011545051.1:c.5860C>A | XP_011543353.1:p.Leu1954Ile | |
| XR_949938.1:n.6180C>A | ||
| XR_949941.1:n.6180C>A | ||
| XM_011545044.2:c.5860C>A | XP_011543346.1:p.Leu1954Ile | |
| XM_011545046.2:c.5950C>A | XP_011543348.2:p.Leu1984Ile | |
| XM_011545050.2:c.5596C>A | XP_011543352.1:p.Leu1866Ile | |
| XM_017017778.1:c.5944C>A | XP_016873267.1:p.Leu1982Ile | |
| XM_017017779.1:c.5941C>A | XP_016873268.1:p.Leu1981Ile | |
| XM_017017780.1:c.5950C>A | XP_016873269.1:p.Leu1984Ile | |
| XM_017017781.1:c.5854C>A | XP_016873270.1:p.Leu1952Ile | |
| XM_017017782.1:c.5836C>A | XP_016873271.1:p.Leu1946Ile | |
| XM_017017783.1:c.5833C>A | XP_016873272.1:p.Leu1945Ile | |
| XM_017017784.1:c.5833C>A | XP_016873273.1:p.Leu1945Ile | |
| XM_017017785.1:c.5713C>A | XP_016873274.1:p.Leu1905Ile | |
| XM_017017786.1:c.5950C>A | XP_016873275.1:p.Leu1984Ile | |
| XM_017017788.1:c.5836C>A | XP_016873277.1:p.Leu1946Ile | |
| XR_001747885.1:n.5965C>A | ||
| XR_001747886.1:n.5880C>A | ||
| XR_001747887.1:n.5951C>A | ||
| NM_000260.4:c.5860C>A MANE Select | NP_000251.3:p.Leu1954Ile | |
| NM_001127180.2:c.5746C>A | NP_001120652.1:p.Leu1916Ile | |
| NM_001369365.1:c.5713C>A | NP_001356294.1:p.Leu1905Ile |