Linked Data
dbSNP Id:
rs769314356
ExAC:
11:2604620 G / A
gnomAD v2:
11-2604620-G-A
gnomAD v4:
11-2583390-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583390G>A , CM000673.2:g.2583390G>A | GRCh38 |
| NC_000011.9:g.2604620G>A , CM000673.1:g.2604620G>A | GRCh37 |
| NC_000011.8:g.2561196G>A | NCBI36 |
| NG_008935.1:g.143400G>A , LRG_287:g.143400G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.661-45G>A | ENSP00000434560.2:n.661-45G>A | |
| ENST00000646564.2:c.478-45G>A | ENSP00000495806.2:n.478-45G>A | |
| ENST00000155840.12:c.922-45G>A MANE Select | ENSP00000155840.2:n.922-45G>A | |
| ENST00000335475.6:c.541-45G>A | ENSP00000334497.5:n.541-45G>A | |
| ENST00000646564.1:c.124-45G>A | ENSP00000495806.1:n.124-45G>A | |
| ENST00000155840.9:c.922-45G>A | ENSP00000155840.2:n.922-45G>A | |
| ENST00000335475.5:c.541-45G>A | ENSP00000334497.5:n.541-45G>A | |
| NM_000218.2:c.922-45G>A , LRG_287t1:c.922-45G>A | NP_000209.2:n.922-45G>A | |
| NM_181798.1:c.541-45G>A , LRG_287t2:c.541-45G>A | NP_861463.1:n.541-45G>A | |
| NM_000218.3:c.922-45G>A MANE Select | NP_000209.2:n.922-45G>A |