Linked Data
dbSNP Id:
rs577190050
gnomAD v2:
17-28548564-G-A
gnomAD v3:
17-30221546-G-A
gnomAD v4:
17-30221546-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30221546G>A , CM000679.2:g.30221546G>A | GRCh38 |
| NC_000017.10:g.28548564G>A , CM000679.1:g.28548564G>A | GRCh37 |
| NC_000017.9:g.25572690G>A | NCBI36 |
| NG_011747.2:g.19391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.343+70C>T MANE Select | ENSP00000498537.1:n.343+70C>T | |
| ENST00000261707.7:c.343+70C>T | ENSP00000261707.3:n.343+70C>T | |
| ENST00000394821.2:c.343+70C>T | ENSP00000378298.2:n.343+70C>T | |
| ENST00000401766.6:c.343+70C>T | ENSP00000385822.2:n.343+70C>T | |
| NM_001045.5:c.343+70C>T | NP_001036.1:n.343+70C>T | |
| NM_001045.6:c.343+70C>T MANE Select | NP_001036.1:n.343+70C>T |