Linked Data
ClinVar Variation Id:
356480
ClinVar RCV Id:
RCV000329082
dbSNP Id:
rs886061340
gnomAD v3:
6-35805366-G-A
gnomAD v4:
6-35805366-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35805366G>A , CM000668.2:g.35805366G>A | GRCh38 |
| NC_000006.11:g.35773143G>A , CM000668.1:g.35773143G>A | GRCh37 |
| NC_000006.10:g.35881121G>A | NCBI36 |
| NG_012184.1:g.5073G>A | |
| NG_012184.2:g.5073G>A | |
| NG_012184.3:g.13161G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.-305G>A MANE Select | ENSP00000353346.1:n.-305G>A | |
| ENST00000651132.1:c.-134-171G>A | ENSP00000498322.1:n.-134-171G>A | |
| ENST00000651994.1:c.-305G>A | ENSP00000498310.1:n.-305G>A | |
| ENST00000360215.2:c.-305G>A | ENSP00000353346.1:n.-305G>A | |
| NM_182548.3:c.-305G>A | NP_872354.1:n.-305G>A | |
| XM_011514403.1:c.-134-171G>A | XP_011512705.1:n.-134-171G>A | |
| NM_182548.4:c.-305G>A MANE Select | NP_872354.1:n.-305G>A |