Linked Data
dbSNP Id:
rs16861990
gnomAD v2:
1-169135127-A-C
gnomAD v3:
1-169165889-A-C
gnomAD v4:
1-169165889-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169165889A>C , CM000663.2:g.169165889A>C | GRCh38 |
| NC_000001.10:g.169135127A>C , CM000663.1:g.169135127A>C | GRCh37 |
| NC_000001.9:g.167401751A>C | NCBI36 |
| NG_051763.1:g.207075T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000688755.1:c.928+11907A>C (ATP1B1) | ENSP00000508725.1:n.928+11907A>C | |
| ENST00000367811.8:c.1098+3558T>G (NME7) MANE Select | ENSP00000356785.3:n.1098+3558T>G | |
| ENST00000367811.7:c.1098+3558T>G (NME7) | ENSP00000356785.3:n.1098+3558T>G | |
| ENST00000472647.5:c.990+3558T>G (NME7) | ENSP00000433341.1:n.990+3558T>G | |
| ENST00000493481.1:n.137+3544T>G (NME7) | ||
| ENST00000525440.5:c.*141+3558T>G (NME7) | ENSP00000431467.1:n.*141+3558T>G | |
| ENST00000530739.5:n.68+24754T>G (NME7) | ||
| NM_013330.4:c.1098+3558T>G (NME7) | NP_037462.1:n.1098+3558T>G | |
| NM_197972.2:c.990+3558T>G (NME7) | NP_932076.1:n.990+3558T>G | |
| NR_104229.1:n.1414+3558T>G (NME7) | ||
| XM_005245106.3:c.726+3558T>G (NME7) | XP_005245163.1:n.726+3558T>G | |
| NM_013330.5:c.1098+3558T>G (NME7) MANE Select | NP_037462.1:n.1098+3558T>G | |
| NM_197972.3:c.990+3558T>G (NME7) | NP_932076.1:n.990+3558T>G | |
| NR_104229.2:n.1248+3558T>G (NME7) |