Linked Data
ClinVar Variation Id:
301990
dbSNP Id:
rs151254531
ExAC:
11:102826042 C / A
gnomAD v2:
11-102826042-C-A
gnomAD v3:
11-102955313-C-A
gnomAD v4:
11-102955313-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102955313C>A , CM000673.2:g.102955313C>A | GRCh38 |
| NC_000011.9:g.102826042C>A , CM000673.1:g.102826042C>A | GRCh37 |
| NC_000011.8:g.102331252C>A | NCBI36 |
| NG_021404.1:g.5422G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260302.8:c.301G>T MANE Select | ENSP00000260302.3:p.Val101Leu | |
| ENST00000260302.7:c.301G>T | ENSP00000260302.3:p.Val101Leu | |
| ENST00000340273.4:c.301G>T | ENSP00000339672.4:p.Val101Leu | |
| ENST00000615555.4:c.301G>T | ENSP00000482883.1:p.Val101Leu | |
| NM_002427.3:c.301G>T | NP_002418.1:p.Val101Leu | |
| NM_002427.4:c.301G>T MANE Select | NP_002418.1:p.Val101Leu |