Linked Data
ClinVar Variation Id:
323271
ClinVar RCV Id:
RCV000274085
dbSNP Id:
rs6416923
gnomAD v2:
17-40556247-G-A
gnomAD v3:
17-42404229-G-A
gnomAD v4:
17-42404229-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404229G>A , CM000679.2:g.42404229G>A | GRCh38 |
| NC_000017.10:g.40556247G>A , CM000679.1:g.40556247G>A | GRCh37 |
| NC_000017.9:g.37809773G>A | NCBI36 |
| NG_015845.1:g.24092C>T | |
| NG_015845.2:g.24092C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357037.6:c.*458C>T MANE Select | ENSP00000349541.4:n.*458C>T | |
| ENST00000357037.5:c.*458C>T | ENSP00000349541.4:n.*458C>T | |
| NM_012232.5:c.*458C>T | NP_036364.2:n.*458C>T | |
| NM_012232.6:c.*458C>T MANE Select | NP_036364.2:n.*458C>T |