Linked Data
dbSNP Id:
rs761681872
ExAC:
19:6697665 T / G
gnomAD v2:
19-6697665-T-G
gnomAD v3:
19-6697654-T-G
gnomAD v4:
19-6697654-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697654T>G , CM000681.2:g.6697654T>G | GRCh38 |
| NC_000019.9:g.6697665T>G , CM000681.1:g.6697665T>G | GRCh37 |
| NC_000019.8:g.6648665T>G | NCBI36 |
| NG_009557.1:g.27998A>C , LRG_27:g.27998A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.929A>C | ||
| ENST00000695652.1:c.2458A>C | ENSP00000512083.1:p.Lys820Gln | |
| ENST00000695653.1:c.490A>C | ENSP00000512084.1:p.Lys164Gln | |
| ENST00000695654.1:c.1705A>C | ENSP00000512085.1:p.Lys569Gln | |
| ENST00000695655.1:c.1522A>C | ENSP00000512086.1:n.1522A>C | |
| ENST00000695692.1:n.1945A>C | ||
| ENST00000245907.11:c.2581A>C MANE Select | ENSP00000245907.4:p.Lys861Gln | |
| ENST00000245907.10:c.2581A>C | ENSP00000245907.4:p.Lys861Gln | |
| ENST00000594005.1:n.62A>C | ||
| NM_000064.3:c.2581A>C | NP_000055.2:p.Lys861Gln | |
| NM_000064.4:c.2581A>C MANE Select | NP_000055.2:p.Lys861Gln |