Linked Data
ClinVar Variation Id:
335302
dbSNP Id:
rs758413374
ExAC:
2:241817580 G / A
gnomAD v2:
2-241817580-G-A
gnomAD v3:
2-240878163-G-A
gnomAD v4:
2-240878163-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878163G>A , CM000664.2:g.240878163G>A | GRCh38 |
| NC_000002.11:g.241817580G>A , CM000664.1:g.241817580G>A | GRCh37 |
| NC_000002.10:g.241466253G>A | NCBI36 |
| NG_008005.1:g.14419G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1071+13G>A MANE Select | ENSP00000302620.3:n.1071+13G>A | |
| ENST00000307503.3:c.1071+13G>A | ENSP00000302620.3:n.1071+13G>A | |
| ENST00000470255.1:n.849+13G>A | ||
| NM_000030.2:c.1071+13G>A | NP_000021.1:n.1071+13G>A | |
| NM_000030.3:c.1071+13G>A MANE Select | NP_000021.1:n.1071+13G>A |