Linked Data
ClinVar Variation Id:
1973552
ClinVar RCV Id:
RCV002736079
dbSNP Id:
rs770488937
ExAC:
12:125434715 G / A
gnomAD v2:
12-125434715-G-A
gnomAD v3:
12-124950169-G-A
gnomAD v4:
12-124950169-G-A
COSMIC:
COSM1628448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124950169G>A , CM000674.2:g.124950169G>A | GRCh38 |
| NC_000012.11:g.125434715G>A , CM000674.1:g.125434715G>A | GRCh37 |
| NC_000012.10:g.124000668G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.3196C>T MANE Select | ENSP00000311135.2:p.Arg1066Trp | |
| ENST00000544745.2:c.2667C>T | ||
| ENST00000308736.6:c.3196C>T | ENSP00000311135.2:p.Arg1066Trp | |
| ENST00000539298.1:n.3296C>T | ||
| ENST00000542400.5:n.1810C>T | ||
| ENST00000544745.1:c.2557C>T | ENSP00000439009.1:p.Arg853Trp | |
| NM_032656.3:c.3196C>T | NP_116045.2:p.Arg1066Trp | |
| XM_005253590.2:c.3196C>T | XP_005253647.1:p.Arg1066Trp | |
| XM_005253590.3:c.3196C>T | XP_005253647.1:p.Arg1066Trp | |
| XR_001748819.1:n.3336C>T | ||
| XR_001748820.1:n.3289C>T | ||
| NM_032656.4:c.3196C>T MANE Select | NP_116045.2:p.Arg1066Trp |