Linked Data
ClinVar Variation Id:
1235543
ClinVar RCV Id:
RCV001618084
dbSNP Id:
rs12146
gnomAD v2:
7-40172505-T-G
gnomAD v3:
7-40132906-T-G
gnomAD v4:
7-40132906-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40132906T>G , CM000669.2:g.40132906T>G | GRCh38 |
| NC_000007.13:g.40172505T>G , CM000669.1:g.40172505T>G | GRCh37 |
| NC_000007.12:g.40139030T>G | NCBI36 |
| NG_016989.2:g.6747A>C | |
| NG_023422.1:g.2931T>G | |
| NG_023422.2:g.2931T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306984.8:c.*153A>C MANE Select | ENSP00000304553.5:n.*153A>C | |
| ENST00000306984.6:c.*153A>C | ENSP00000304553.5:n.*153A>C | |
| NM_138701.3:c.*153A>C | NP_619646.1:n.*153A>C | |
| NM_138701.4:c.*153A>C MANE Select | NP_619646.1:n.*153A>C |