Linked Data
dbSNP Id:
rs781529279
ExAC:
1:159856492 G / A
gnomAD v2:
1-159856492-G-A
gnomAD v3:
1-159886702-G-A
gnomAD v4:
1-159886702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886702G>A , CM000663.2:g.159886702G>A | GRCh38 |
| NC_000001.10:g.159856492G>A , CM000663.1:g.159856492G>A | GRCh37 |
| NC_000001.9:g.158123116G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.589-13C>T MANE Select | ENSP00000357079.4:n.589-13C>T | |
| ENST00000368099.8:c.589-13C>T | ENSP00000357079.4:n.589-13C>T | |
| ENST00000426543.6:c.334-13C>T | ENSP00000403044.2:n.334-13C>T | |
| ENST00000476696.5:c.589-13C>T | ENSP00000483972.1:n.589-13C>T | |
| ENST00000479940.2:c.334-13C>T | ENSP00000478944.1:n.334-13C>T | |
| NM_012337.2:c.589-13C>T | NP_036469.2:n.589-13C>T | |
| NM_012337.3:c.589-13C>T MANE Select | NP_036469.2:n.589-13C>T |