Linked Data
ClinVar Variation Id:
281605
ClinVar RCV Id:
RCV000315164
dbSNP Id:
rs6981
ExAC:
1:39500186 G / A
gnomAD v2:
1-39500186-G-A
gnomAD v3:
1-39034514-G-A
gnomAD v4:
1-39034514-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39034514G>A , CM000663.2:g.39034514G>A | GRCh38 |
| NC_000001.10:g.39500186G>A , CM000663.1:g.39500186G>A | GRCh37 |
| NC_000001.9:g.39272773G>A | NCBI36 |
| NG_028193.1:g.13220G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372969.8:c.*18G>A MANE Select | ENSP00000362060.3:n.*18G>A | |
| ENST00000372967.3:c.*18G>A | ENSP00000362058.3:n.*18G>A | |
| ENST00000372969.7:c.*18G>A | ENSP00000362060.3:n.*18G>A | |
| NM_001184979.1:c.*18G>A | NP_001171908.1:n.*18G>A | |
| NM_004552.2:c.*18G>A | NP_004543.1:n.*18G>A | |
| NM_004552.3:c.*18G>A MANE Select | NP_004543.1:n.*18G>A | |
| NM_001184979.2:c.*18G>A | NP_001171908.1:n.*18G>A |