Linked Data
dbSNP Id:
rs782693026
ExAC:
2:71058817 G / A
gnomAD v2:
2-71058817-G-A
gnomAD v3:
2-70831686-G-A
gnomAD v4:
2-70831686-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831686G>A , CM000664.2:g.70831686G>A | GRCh38 |
| NC_000002.11:g.71058817G>A , CM000664.1:g.71058817G>A | GRCh37 |
| NC_000002.10:g.70912325G>A | NCBI36 |
| NG_033914.1:g.9138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.836+15C>T MANE Select | ENSP00000386378.3:n.836+15C>T | |
| ENST00000410009.4:c.836+15C>T | ENSP00000386378.3:n.836+15C>T | |
| NM_015717.4:c.836+15C>T | NP_056532.4:n.836+15C>T | |
| XM_011532874.1:c.836+15C>T | XP_011531176.1:n.836+15C>T | |
| XM_011532875.1:c.836+15C>T | XP_011531177.1:n.836+15C>T | |
| XM_011532876.1:c.836+15C>T | XP_011531178.1:n.836+15C>T | |
| XM_011532875.2:c.836+15C>T | XP_011531177.1:n.836+15C>T | |
| XM_011532876.2:c.836+15C>T | XP_011531178.1:n.836+15C>T | |
| NM_015717.5:c.836+15C>T MANE Select | NP_056532.4:n.836+15C>T |