Linked Data
dbSNP Id:
rs780877533
ExAC:
19:6709822 C / A
gnomAD v2:
19-6709822-C-A
gnomAD v3:
19-6709811-C-A
gnomAD v4:
19-6709811-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709811C>A , CM000681.2:g.6709811C>A | GRCh38 |
| NC_000019.9:g.6709822C>A , CM000681.1:g.6709822C>A | GRCh37 |
| NC_000019.8:g.6660822C>A | NCBI36 |
| NG_009557.1:g.15841G>T , LRG_27:g.15841G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1595G>T | ENSP00000512083.1:p.Arg532Leu | |
| ENST00000695654.1:c.842G>T | ENSP00000512085.1:p.Arg281Leu | |
| ENST00000695655.1:c.659G>T | ENSP00000512086.1:n.659G>T | |
| ENST00000695692.1:n.1082G>T | ||
| ENST00000245907.11:c.1718G>T MANE Select | ENSP00000245907.4:p.Arg573Leu | |
| ENST00000245907.10:c.1718G>T | ENSP00000245907.4:p.Arg573Leu | |
| ENST00000600763.1:n.351G>T | ||
| NM_000064.3:c.1718G>T | NP_000055.2:p.Arg573Leu | |
| NM_000064.4:c.1718G>T MANE Select | NP_000055.2:p.Arg573Leu |