Linked Data
ClinVar Variation Id:
436777
dbSNP Id:
rs139254595
ExAC:
16:3639109 C / A
gnomAD v2:
16-3639109-C-A
gnomAD v3:
16-3589108-C-A
gnomAD v4:
16-3589108-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3589108C>A , CM000678.2:g.3589108C>A | GRCh38 |
| NC_000016.9:g.3639109C>A , CM000678.1:g.3639109C>A | GRCh37 |
| NC_000016.8:g.3579110C>A | NCBI36 |
| NG_028123.1:g.27477G>T , LRG_503:g.27477G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.4530G>T MANE Select | ENSP00000294008.3:p.Leu1510= | |
| ENST00000294008.3:c.4530G>T | ENSP00000294008.3:p.Leu1510= | |
| NM_032444.2:c.4530G>T , LRG_503t1:c.4530G>T | NP_115820.2:p.Leu1510= | |
| XM_011522715.1:c.4530G>T | XP_011521017.1:p.Leu1510= | |
| NM_032444.3:c.4530G>T | NP_115820.2:p.Leu1510= | |
| XM_011522715.3:c.4530G>T | XP_011521017.1:p.Leu1510= | |
| XM_017023775.2:c.3708G>T | XP_016879264.1:p.Leu1236= | |
| XM_024450471.1:c.4530G>T | XP_024306239.1:p.Leu1510= | |
| NM_032444.4:c.4530G>T MANE Select | NP_115820.2:p.Leu1510= |