Linked Data
ClinVar Variation Id:
357661
ClinVar RCV Id:
RCV000383445
dbSNP Id:
rs3024464
gnomAD v2:
6-6145631-C-T
gnomAD v3:
6-6145398-C-T
gnomAD v4:
6-6145398-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145398C>T , CM000668.2:g.6145398C>T | GRCh38 |
| NC_000006.11:g.6145631C>T , CM000668.1:g.6145631C>T | GRCh37 |
| NC_000006.10:g.6090630C>T | NCBI36 |
| NG_008107.1:g.180294G>A , LRG_549:g.180294G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.*221G>A MANE Select | ENSP00000264870.3:n.*221G>A | |
| ENST00000264870.7:c.*221G>A | ENSP00000264870.3:n.*221G>A | |
| NM_000129.3:c.*221G>A , LRG_549t1:c.*221G>A | NP_000120.2:n.*221G>A | |
| XM_006715010.2:c.*221G>A | XP_006715073.1:n.*221G>A | |
| XM_011514342.1:c.*221G>A | XP_011512644.1:n.*221G>A | |
| NM_000129.4:c.*221G>A MANE Select | NP_000120.2:n.*221G>A |