Linked Data
ClinVar Variation Id:
2073971
ClinVar RCV Id:
RCV002944200
dbSNP Id:
rs374990950
ExAC:
2:241818115 G / A
gnomAD v2:
2-241818115-G-A
gnomAD v3:
2-240878698-G-A
gnomAD v4:
2-240878698-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878698G>A , CM000664.2:g.240878698G>A | GRCh38 |
| NC_000002.11:g.241818115G>A , CM000664.1:g.241818115G>A | GRCh37 |
| NC_000002.10:g.241466788G>A | NCBI36 |
| NG_008005.1:g.14954G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.1072-16G>A MANE Select | ENSP00000302620.3:n.1072-16G>A | |
| ENST00000307503.3:c.1072-16G>A | ENSP00000302620.3:n.1072-16G>A | |
| ENST00000470255.1:n.850-16G>A | ||
| NM_000030.2:c.1072-16G>A | NP_000021.1:n.1072-16G>A | |
| NM_000030.3:c.1072-16G>A MANE Select | NP_000021.1:n.1072-16G>A |