Linked Data
ClinVar Variation Id:
2227727
ClinVar RCV Id:
RCV002678849
dbSNP Id:
rs770036497
gnomAD v2:
1-120269725-G-T
gnomAD v4:
1-119727102-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119727102G>T , CM000663.2:g.119727102G>T | GRCh38 |
| NC_000001.10:g.120269725G>T , CM000663.1:g.120269725G>T | GRCh37 |
| NC_000001.9:g.120071248G>T | NCBI36 |
| NG_009188.1:g.20307G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.510G>T | ENSP00000358417.5:p.Lys170Asn | |
| ENST00000462324.2:n.593G>T | ||
| ENST00000641023.2:c.510G>T MANE Select | ENSP00000493175.1:p.Lys170Asn | |
| ENST00000641074.1:c.510G>T | ENSP00000493446.1:p.Lys170Asn | |
| ENST00000641115.1:c.510G>T | ENSP00000493264.1:p.Lys170Asn | |
| ENST00000641213.1:c.*163G>T | ENSP00000493079.1:n.*163G>T | |
| ENST00000641247.1:c.*229G>T | ENSP00000492955.1:n.*229G>T | |
| ENST00000641272.1:c.444G>T | ENSP00000493432.1:p.Lys148Asn | |
| ENST00000641314.1:n.495G>T | ||
| ENST00000641371.1:c.424G>T | ENSP00000493305.1:p.Asp142Tyr | |
| ENST00000641375.1:c.*346G>T | ENSP00000493089.1:n.*346G>T | |
| ENST00000641455.1:n.55G>T | ||
| ENST00000641491.1:c.*163G>T | ENSP00000493187.1:n.*163G>T | |
| ENST00000641570.1:c.*229G>T | ENSP00000493213.1:n.*229G>T | |
| ENST00000641573.1:n.598G>T | ||
| ENST00000641587.1:c.*221G>T | ENSP00000493453.1:n.*221G>T | |
| ENST00000641597.1:c.510G>T | ENSP00000493382.1:p.Lys170Asn | |
| ENST00000641756.1:c.*254G>T | ENSP00000493147.1:n.*254G>T | |
| ENST00000641811.1:c.266G>T | ||
| ENST00000641847.1:n.369G>T | ||
| ENST00000641891.1:c.*336G>T | ENSP00000493288.1:n.*336G>T | |
| ENST00000641927.1:n.450G>T | ||
| ENST00000641947.1:c.510G>T | ENSP00000492994.1:p.Lys170Asn | |
| ENST00000642021.1:n.632G>T | ||
| ENST00000369407.3:c.408G>T | ENSP00000358415.3:p.Lys136Asn | |
| ENST00000369409.8:c.510G>T | ENSP00000358417.4:p.Lys170Asn | |
| ENST00000462324.1:n.778G>T | ||
| ENST00000493622.5:n.699G>T | ||
| NM_006623.3:c.510G>T | NP_006614.2:p.Lys170Asn | |
| XM_011541226.1:c.732G>T | XP_011539528.1:p.Lys244Asn | |
| XM_011541227.1:c.654G>T | XP_011539529.1:p.Lys218Asn | |
| XM_011541228.1:c.621G>T | XP_011539530.1:p.Lys207Asn | |
| XM_011541229.1:c.447G>T | XP_011539531.1:p.Lys149Asn | |
| XM_011541230.1:c.225G>T | XP_011539532.1:p.Lys75Asn | |
| XM_011541231.1:c.216G>T | XP_011539533.1:p.Lys72Asn | |
| XM_011541226.2:c.732G>T | XP_011539528.1:p.Lys244Asn | |
| XM_011541227.2:c.654G>T | XP_011539529.1:p.Lys218Asn | |
| XM_011541228.2:c.621G>T | XP_011539530.1:p.Lys207Asn | |
| XM_011541231.2:c.216G>T | XP_011539533.1:p.Lys72Asn | |
| XM_024446338.1:c.621G>T | XP_024302106.1:p.Lys207Asn | |
| NM_006623.4:c.510G>T MANE Select | NP_006614.2:p.Lys170Asn |