Linked Data
dbSNP Id:
rs551581582
ExAC:
19:6713295 C / A
gnomAD v2:
19-6713295-C-A
gnomAD v3:
19-6713284-C-A
gnomAD v4:
19-6713284-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713284C>A , CM000681.2:g.6713284C>A | GRCh38 |
| NC_000019.9:g.6713295C>A , CM000681.1:g.6713295C>A | GRCh37 |
| NC_000019.8:g.6664295C>A | NCBI36 |
| NG_009557.1:g.12368G>T , LRG_27:g.12368G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.785G>T | ENSP00000512083.1:p.Ser262Ile | |
| ENST00000695654.1:c.32G>T | ENSP00000512085.1:p.Ser11Ile | |
| ENST00000695692.1:n.232G>T | ||
| ENST00000245907.11:c.908G>T MANE Select | ENSP00000245907.4:p.Ser303Ile | |
| ENST00000245907.10:c.908G>T | ENSP00000245907.4:p.Ser303Ile | |
| ENST00000594270.5:n.32G>T | ||
| ENST00000595577.1:n.412G>T | ||
| ENST00000597442.5:n.158G>T | ||
| NM_000064.3:c.908G>T | NP_000055.2:p.Ser303Ile | |
| NM_000064.4:c.908G>T MANE Select | NP_000055.2:p.Ser303Ile |