COSMIC:
COSM4407223 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51639646 (AMR)
Genomes Max Group AF
0.47389472 (AMR)
Exomes Max Group AF
0.52871979 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114270742T>C , CM000671.2:g.114270742T>C | GRCh38 |
| NC_000009.11:g.117033022T>C , CM000671.1:g.117033022T>C | GRCh37 |
| NC_000009.10:g.116072843T>C | NCBI36 |
| NG_034260.1:g.120198T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356083.8:c.3570T>C MANE Select | ENSP00000348385.3:p.Leu1190= | |
| ENST00000356083.7:c.3570T>C | ENSP00000348385.3:p.Leu1190= | |
| ENST00000477421.2:n.503T>C | ||
| ENST00000494090.6:c.2463T>C | ||
| NM_032888.3:c.3570T>C | NP_116277.2:p.Leu1190= | |
| XM_006717308.2:c.3516T>C | XP_006717371.1:p.Leu1172= | |
| XM_006717310.2:c.1251T>C | XP_006717373.1:p.Leu417= | |
| XM_011519138.1:c.3564T>C | XP_011517440.1:p.Leu1188= | |
| XM_011519139.1:c.3546T>C | XP_011517441.1:p.Leu1182= | |
| XM_011519140.1:c.3516T>C | XP_011517442.1:p.Leu1172= | |
| XM_011519141.1:c.3570T>C | XP_011517443.1:p.Leu1190= | |
| XM_011519142.1:c.3570T>C | XP_011517444.1:p.Leu1190= | |
| XM_011519143.1:c.3570T>C | XP_011517445.1:p.Leu1190= | |
| XM_011519144.1:c.3570T>C | XP_011517446.1:p.Leu1190= | |
| XM_011519145.1:c.1137T>C | XP_011517447.1:p.Leu379= | |
| XR_929860.1:n.4046T>C | ||
| XR_929861.1:n.4047T>C | ||
| XR_929862.1:n.4055T>C | ||
| XR_929863.1:n.4001T>C | ||
| XM_006717310.3:c.1251T>C | XP_006717373.1:p.Leu417= | |
| XM_011519138.2:c.3564T>C | XP_011517440.1:p.Leu1188= | |
| XM_011519142.3:c.3570T>C | XP_011517444.1:p.Leu1190= | |
| XM_011519143.2:c.3570T>C | XP_011517445.1:p.Leu1190= | |
| XM_011519144.2:c.3570T>C | XP_011517446.1:p.Leu1190= | |
| XM_011519145.3:c.1137T>C | XP_011517447.1:p.Leu379= | |
| XM_017015239.1:c.3608T>C | XP_016870728.1:p.Leu1203Ser | |
| XR_001746405.1:n.4048T>C | ||
| XR_929860.3:n.4047T>C | ||
| XR_929861.2:n.4048T>C | ||
| NM_032888.4:c.3570T>C MANE Select | NP_116277.2:p.Leu1190= |