Linked Data
dbSNP Id:
rs1325483049
gnomAD v2:
5-148374033-C-T
gnomAD v3:
5-148994470-C-T
gnomAD v4:
5-148994470-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994470C>T , CM000667.2:g.148994470C>T | GRCh38 |
| NC_000005.9:g.148374033C>T , CM000667.1:g.148374033C>T | GRCh37 |
| NC_000005.8:g.148354226C>T | NCBI36 |
| NG_007947.2:g.73705G>A , LRG_269:g.73705G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*10241G>A MANE Select | ENSP00000423660.1:n.*10241G>A | |
| ENST00000504690.5:c.*12+9256G>A | ENSP00000425627.1:n.*12+9256G>A | |
| ENST00000510350.1:n.231+12411G>A | ||
| NM_024577.3:c.*10241G>A , LRG_269t1:c.*10241G>A | NP_078853.2:n.*10241G>A | |
| NM_024577.4:c.*10241G>A MANE Select | NP_078853.2:n.*10241G>A |