Linked Data
dbSNP Id:
rs563332008
gnomAD v2:
2-241813289-G-A
gnomAD v3:
2-240873872-G-A
gnomAD v4:
2-240873872-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873872G>A , CM000664.2:g.240873872G>A | GRCh38 |
| NC_000002.11:g.241813289G>A , CM000664.1:g.241813289G>A | GRCh37 |
| NC_000002.10:g.241461962G>A | NCBI36 |
| NG_008005.1:g.10128G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.596-106G>A MANE Select | ENSP00000302620.3:n.596-106G>A | |
| ENST00000307503.3:c.596-106G>A | ENSP00000302620.3:n.596-106G>A | |
| ENST00000476698.1:n.332+823G>A | ||
| NM_000030.2:c.596-106G>A | NP_000021.1:n.596-106G>A | |
| NM_000030.3:c.596-106G>A MANE Select | NP_000021.1:n.596-106G>A |