Linked Data
dbSNP Id:
rs764054278
ExAC:
19:6686210 G / A
gnomAD v2:
19-6686210-G-A
gnomAD v4:
19-6686199-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6686199G>A , CM000681.2:g.6686199G>A | GRCh38 |
| NC_000019.9:g.6686210G>A , CM000681.1:g.6686210G>A | GRCh37 |
| NC_000019.8:g.6637210G>A | NCBI36 |
| NG_009557.1:g.39453C>T , LRG_27:g.39453C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2083C>T | ||
| ENST00000695652.1:c.3612C>T | ENSP00000512083.1:p.Asp1204= | |
| ENST00000695653.1:c.1644C>T | ENSP00000512084.1:p.Asp548= | |
| ENST00000695654.1:c.2760C>T | ENSP00000512085.1:p.Asp920= | |
| ENST00000695655.1:c.2676C>T | ENSP00000512086.1:n.2676C>T | |
| ENST00000695692.1:n.3099C>T | ||
| ENST00000245907.11:c.3735C>T MANE Select | ENSP00000245907.4:p.Asp1245= | |
| ENST00000245907.10:c.3735C>T | ENSP00000245907.4:p.Asp1245= | |
| ENST00000596238.1:n.178C>T | ||
| ENST00000601008.1:c.241+547C>T | ENSP00000471384.1:n.241+547C>T | |
| NM_000064.3:c.3735C>T | NP_000055.2:p.Asp1245= | |
| NM_000064.4:c.3735C>T MANE Select | NP_000055.2:p.Asp1245= |