Linked Data
ClinVar Variation Id:
328996
ClinVar RCV Id:
RCV000293885
RCV000278670
RCV000351092
RCV000389411
RCV000996863
RCV000823531
RCV002521218
dbSNP Id:
rs369281291
ExAC:
19:38949974 G / A
gnomAD v2:
19-38949974-G-A
gnomAD v3:
19-38459334-G-A
gnomAD v4:
19-38459334-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38459334G>A , CM000681.2:g.38459334G>A | GRCh38 |
| NC_000019.9:g.38949974G>A , CM000681.1:g.38949974G>A | GRCh37 |
| NC_000019.8:g.43641814G>A | NCBI36 |
| NG_008866.1:g.30635G>A , LRG_766:g.30635G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.2356G>A | ENSP00000471601.2:p.Val786Ile | |
| ENST00000359596.8:c.2356G>A MANE Select | ENSP00000352608.2:p.Val786Ile | |
| ENST00000355481.8:c.2356G>A | ENSP00000347667.3:p.Val786Ile | |
| ENST00000359596.7:c.2356G>A | ENSP00000352608.2:p.Val786Ile | |
| ENST00000360985.7:c.2356G>A | ENSP00000354254.4:p.Val786Ile | |
| NM_000540.2:c.2356G>A , LRG_766t1:c.2356G>A | NP_000531.2:p.Val786Ile | |
| NM_001042723.1:c.2356G>A | NP_001036188.1:p.Val786Ile | |
| XM_006723317.1:c.2356G>A | XP_006723380.1:p.Val786Ile | |
| XM_006723319.1:c.2356G>A | XP_006723382.1:p.Val786Ile | |
| XM_011527204.1:c.2353G>A | XP_011525506.1:p.Val785Ile | |
| XM_011527205.1:c.2356G>A | XP_011525507.1:p.Val786Ile | |
| XM_006723317.2:c.2356G>A | XP_006723380.1:p.Val786Ile | |
| XM_006723319.2:c.2356G>A | XP_006723382.1:p.Val786Ile | |
| XM_011527205.2:c.2356G>A | XP_011525507.1:p.Val786Ile | |
| XR_001753735.1:n.2439G>A | ||
| NM_000540.3:c.2356G>A MANE Select | NP_000531.2:p.Val786Ile | |
| NM_001042723.2:c.2356G>A | NP_001036188.1:p.Val786Ile |