Linked Data
ClinVar Variation Id:
514852
dbSNP Id:
rs754877424
ExAC:
17:44115981 A / C
gnomAD v2:
17-44115981-A-C
gnomAD v3:
17-46038615-A-C
gnomAD v4:
17-46038615-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46038615A>C , CM000679.2:g.46038615A>C | GRCh38 |
| NC_000017.10:g.44115981A>C , CM000679.1:g.44115981A>C | GRCh37 |
| NC_000017.9:g.41471828A>C | NCBI36 |
| NG_032784.1:g.191760T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432791.7:c.2464T>G MANE Select | ENSP00000387393.3:p.Leu822Val | |
| ENST00000572904.6:c.2464T>G | ENSP00000461484.1:p.Leu822Val | |
| ENST00000573286.2:n.4147T>G | ||
| ENST00000574590.6:c.2464T>G | ENSP00000461812.2:p.Leu822Val | |
| ENST00000575318.6:c.2275T>G | ENSP00000461299.1:p.Leu759Val | |
| ENST00000576137.2:n.461T>G | ||
| ENST00000638275.1:c.2275T>G | ENSP00000492576.1:p.Leu759Val | |
| ENST00000639150.1:c.1198T>G | ENSP00000491906.1:p.Leu400Val | |
| ENST00000639467.1:c.127T>G | ENSP00000492741.1:p.Leu43Val | |
| ENST00000639531.1:c.2275T>G | ENSP00000491765.1:p.Leu759Val | |
| ENST00000640636.1:c.417T>G | ||
| ENST00000648792.1:c.2464T>G | ENSP00000497628.1:p.Leu822Val | |
| ENST00000262419.10:c.2464T>G | ENSP00000262419.6:p.Leu822Val | |
| ENST00000432791.5:c.2464T>G | ENSP00000387393.2:p.Leu822Val | |
| ENST00000572218.5:n.6681T>G | ||
| ENST00000572904.5:c.2464T>G | ENSP00000461484.1:p.Leu822Val | |
| ENST00000573286.1:n.320T>G | ||
| ENST00000574590.5:c.2464T>G | ENSP00000461812.1:p.Leu822Val | |
| ENST00000575318.5:c.2275T>G | ENSP00000461299.1:p.Leu759Val | |
| ENST00000576137.1:n.103T>G | ||
| ENST00000576870.5:n.436T>G | ||
| NM_001193465.1:c.2464T>G | NP_001180394.1:p.Leu822Val | |
| NM_001193466.1:c.2464T>G | NP_001180395.1:p.Leu822Val | |
| NM_015443.3:c.2464T>G | NP_056258.1:p.Leu822Val | |
| XM_006721823.1:c.2464T>G | XP_006721886.1:p.Leu822Val | |
| XM_006721824.2:c.2464T>G | XP_006721887.1:p.Leu822Val | |
| XM_011524628.1:c.2464T>G | XP_011522930.1:p.Leu822Val | |
| XM_011524629.1:c.2362T>G | XP_011522931.1:p.Leu788Val | |
| XM_011524630.1:c.2275T>G | XP_011522932.1:p.Leu759Val | |
| XM_011524631.1:c.2275T>G | XP_011522933.1:p.Leu759Val | |
| XM_011524632.1:c.1234T>G | XP_011522934.1:p.Leu412Val | |
| XM_006721823.2:c.2464T>G | XP_006721886.1:p.Leu822Val | |
| XM_006721824.4:c.2464T>G | XP_006721887.1:p.Leu822Val | |
| XM_011524628.3:c.2464T>G | XP_011522930.1:p.Leu822Val | |
| XM_011524629.3:c.2362T>G | XP_011522931.1:p.Leu788Val | |
| XM_011524630.3:c.2275T>G | XP_011522932.1:p.Leu759Val | |
| XM_011524631.3:c.2275T>G | XP_011522933.1:p.Leu759Val | |
| XM_011524632.3:c.1234T>G | XP_011522934.1:p.Leu412Val | |
| XM_017024488.2:c.2275T>G | XP_016879977.1:p.Leu759Val | |
| XM_017024489.1:c.2362T>G | XP_016879978.1:p.Leu788Val | |
| NM_001193466.2:c.2464T>G | NP_001180395.1:p.Leu822Val | |
| NM_015443.4:c.2464T>G MANE Select | NP_056258.1:p.Leu822Val | |
| NM_001193465.2:c.2464T>G | NP_001180394.1:p.Leu822Val | |
| NM_001379198.1:c.2464T>G | NP_001366127.1:p.Leu822Val |