Linked Data
ClinVar Variation Id:
440171
ClinVar RCV Id:
RCV001672821
dbSNP Id:
rs11546151
ExAC:
7:100850144 G / A
gnomAD v2:
7-100850144-G-A
gnomAD v3:
7-101206863-G-A
gnomAD v4:
7-101206863-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101206863G>A , CM000669.2:g.101206863G>A | GRCh38 |
| NC_000007.13:g.100850144G>A , CM000669.1:g.100850144G>A | GRCh37 |
| NC_000007.12:g.100636864G>A | NCBI36 |
| NG_012148.1:g.15868C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223127.8:c.1977C>T MANE Select | ENSP00000223127.3:p.Asp659= | |
| ENST00000223127.7:c.1977C>T | ENSP00000223127.3:p.Asp659= | |
| ENST00000454310.5:c.554C>T | ||
| NM_001084.4:c.1977C>T | NP_001075.1:p.Asp659= | |
| NM_001084.5:c.1977C>T MANE Select | NP_001075.1:p.Asp659= |