Linked Data
dbSNP Id:
rs1291287061
gnomAD v2:
19-6712924-C-T
gnomAD v3:
19-6712913-C-T
gnomAD v4:
19-6712913-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6712913C>T , CM000681.2:g.6712913C>T | GRCh38 |
| NC_000019.9:g.6712924C>T , CM000681.1:g.6712924C>T | GRCh37 |
| NC_000019.8:g.6663924C>T | NCBI36 |
| NG_009557.1:g.12739G>A , LRG_27:g.12739G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.880+276G>A | ENSP00000512083.1:n.880+276G>A | |
| ENST00000695654.1:c.127+276G>A | ENSP00000512085.1:n.127+276G>A | |
| ENST00000695692.1:n.328-250G>A | ||
| ENST00000245907.11:c.1003+276G>A MANE Select | ENSP00000245907.4:n.1003+276G>A | |
| ENST00000245907.10:c.1003+276G>A | ENSP00000245907.4:n.1003+276G>A | |
| ENST00000594270.5:n.127+276G>A | ||
| ENST00000595577.1:n.507+276G>A | ||
| ENST00000597442.5:n.253+276G>A | ||
| NM_000064.3:c.1003+276G>A | NP_000055.2:n.1003+276G>A | |
| NM_000064.4:c.1003+276G>A MANE Select | NP_000055.2:n.1003+276G>A |