Linked Data
ClinVar Variation Id:
356489
ClinVar RCV Id:
RCV000368236
dbSNP Id:
rs886061344
gnomAD v2:
6-35773653-T-C
gnomAD v3:
6-35805876-T-C
gnomAD v4:
6-35805876-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35805876T>C , CM000668.2:g.35805876T>C | GRCh38 |
| NC_000006.11:g.35773653T>C , CM000668.1:g.35773653T>C | GRCh37 |
| NC_000006.10:g.35881631T>C | NCBI36 |
| NG_012184.1:g.5583T>C | |
| NG_012184.2:g.5583T>C | |
| NG_012184.3:g.13671T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360215.3:c.206T>C MANE Select | ENSP00000353346.1:p.Val69Ala | |
| ENST00000651132.1:c.206T>C | ENSP00000498322.1:p.Val69Ala | |
| ENST00000651676.1:c.206T>C | ENSP00000498699.1:p.Val69Ala | |
| ENST00000651994.1:c.206T>C | ENSP00000498310.1:p.Val69Ala | |
| ENST00000652718.1:c.38T>C | ENSP00000498866.1:p.Val13Ala | |
| ENST00000360215.2:c.206T>C | ENSP00000353346.1:p.Val69Ala | |
| NM_182548.3:c.206T>C | NP_872354.1:p.Val69Ala | |
| XM_011514403.1:c.206T>C | XP_011512705.1:p.Val69Ala | |
| NM_182548.4:c.206T>C MANE Select | NP_872354.1:p.Val69Ala |