Linked Data
dbSNP Id:
rs2235375
ExAC:
1:209965587 G / T
gnomAD v2:
1-209965587-G-T
gnomAD v3:
1-209792242-G-T
gnomAD v4:
1-209792242-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209792242G>T , CM000663.2:g.209792242G>T | GRCh38 |
| NC_000001.10:g.209965587G>T , CM000663.1:g.209965587G>T | GRCh37 |
| NC_000001.9:g.208032210G>T | NCBI36 |
| NG_007081.2:g.18893C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696133.1:c.667+27C>A | ENSP00000512426.1:n.667+27C>A | |
| ENST00000696134.1:c.667+27C>A | ENSP00000512427.1:n.667+27C>A | |
| ENST00000367021.8:c.667+27C>A MANE Select | ENSP00000355988.3:n.667+27C>A | |
| ENST00000643798.1:c.*177+27C>A | ENSP00000496669.1:n.*177+27C>A | |
| ENST00000367021.7:c.667+27C>A | ENSP00000355988.3:n.667+27C>A | |
| ENST00000456314.1:c.667+27C>A | ENSP00000403855.1:n.667+27C>A | |
| ENST00000464698.1:n.446+27C>A | ||
| ENST00000542854.5:c.382+27C>A | ENSP00000440532.1:n.382+27C>A | |
| NM_001206696.1:c.382+27C>A | NP_001193625.1:n.382+27C>A | |
| NM_006147.3:c.667+27C>A | NP_006138.1:n.667+27C>A | |
| NM_006147.4:c.667+27C>A MANE Select | NP_006138.1:n.667+27C>A | |
| NM_001206696.2:c.382+27C>A | NP_001193625.1:n.382+27C>A |