Linked Data
dbSNP Id:
rs775221651
ExAC:
7:120428759 G / T
gnomAD v2:
7-120428759-G-T
gnomAD v3:
7-120788705-G-T
gnomAD v4:
7-120788705-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120788705G>T , CM000669.2:g.120788705G>T | GRCh38 |
| NC_000007.13:g.120428759G>T , CM000669.1:g.120428759G>T | GRCh37 |
| NC_000007.12:g.120215995G>T | NCBI36 |
| NG_023203.1:g.74419C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222747.8:c.805C>A MANE Select | ENSP00000222747.3:p.Gln269Lys | |
| ENST00000222747.7:c.805C>A | ENSP00000222747.3:p.Gln269Lys | |
| ENST00000415871.5:c.805C>A | ENSP00000397699.1:p.Gln269Lys | |
| ENST00000450414.5:c.784C>A | ENSP00000397411.1:n.784C>A | |
| NM_012338.3:c.805C>A | NP_036470.1:p.Gln269Lys | |
| XM_005250239.1:c.805C>A | XP_005250296.1:p.Gln269Lys | |
| XM_011515993.1:c.805C>A | XP_011514295.1:p.Gln269Lys | |
| XM_011515994.1:c.805C>A | XP_011514296.1:p.Gln269Lys | |
| XM_005250239.3:c.805C>A | XP_005250296.1:p.Gln269Lys | |
| XM_017011913.1:c.730C>A | XP_016867402.1:p.Gln244Lys | |
| NM_012338.4:c.805C>A MANE Select | NP_036470.1:p.Gln269Lys |