Linked Data
dbSNP Id:
rs754832268
ExAC:
19:6709876 G / A
gnomAD v2:
19-6709876-G-A
gnomAD v3:
19-6709865-G-A
gnomAD v4:
19-6709865-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709865G>A , CM000681.2:g.6709865G>A | GRCh38 |
| NC_000019.9:g.6709876G>A , CM000681.1:g.6709876G>A | GRCh37 |
| NC_000019.8:g.6660876G>A | NCBI36 |
| NG_009557.1:g.15787C>T , LRG_27:g.15787C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-23C>T | ENSP00000512083.1:n.1564-23C>T | |
| ENST00000695654.1:c.811-23C>T | ENSP00000512085.1:n.811-23C>T | |
| ENST00000695655.1:c.605C>T | ENSP00000512086.1:n.605C>T | |
| ENST00000695692.1:n.1051-23C>T | ||
| ENST00000245907.11:c.1687-23C>T MANE Select | ENSP00000245907.4:n.1687-23C>T | |
| ENST00000245907.10:c.1687-23C>T | ENSP00000245907.4:n.1687-23C>T | |
| ENST00000600763.1:n.320-23C>T | ||
| NM_000064.3:c.1687-23C>T | NP_000055.2:n.1687-23C>T | |
| NM_000064.4:c.1687-23C>T MANE Select | NP_000055.2:n.1687-23C>T |