Linked Data
ClinVar Variation Id:
2697934
ClinVar RCV Id:
RCV003502894
MyVariant Identifiers:
chr1:g.120269662A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119727039A>T , CM000663.2:g.119727039A>T | GRCh38 |
| NC_000001.10:g.120269662A>T , CM000663.1:g.120269662A>T | GRCh37 |
| NC_000001.9:g.120071185A>T | NCBI36 |
| NG_009188.1:g.20244A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.447A>T | ENSP00000358417.5:p.Gly149= | |
| ENST00000462324.2:n.530A>T | ||
| ENST00000641023.2:c.447A>T MANE Select | ENSP00000493175.1:p.Gly149= | |
| ENST00000641074.1:c.447A>T | ENSP00000493446.1:p.Gly149= | |
| ENST00000641115.1:c.447A>T | ENSP00000493264.1:p.Gly149= | |
| ENST00000641213.1:c.*100A>T | ENSP00000493079.1:n.*100A>T | |
| ENST00000641247.1:c.*166A>T | ENSP00000492955.1:n.*166A>T | |
| ENST00000641272.1:c.381A>T | ENSP00000493432.1:p.Gly127= | |
| ENST00000641314.1:n.432A>T | ||
| ENST00000641371.1:c.361A>T | ENSP00000493305.1:p.Asn121Tyr | |
| ENST00000641375.1:c.*283A>T | ENSP00000493089.1:n.*283A>T | |
| ENST00000641491.1:c.*100A>T | ENSP00000493187.1:n.*100A>T | |
| ENST00000641570.1:c.*166A>T | ENSP00000493213.1:n.*166A>T | |
| ENST00000641573.1:n.535A>T | ||
| ENST00000641587.1:c.*158A>T | ENSP00000493453.1:n.*158A>T | |
| ENST00000641597.1:c.447A>T | ENSP00000493382.1:p.Gly149= | |
| ENST00000641711.1:n.671A>T | ||
| ENST00000641756.1:c.*191A>T | ENSP00000493147.1:n.*191A>T | |
| ENST00000641811.1:c.203A>T | ||
| ENST00000641847.1:n.306A>T | ||
| ENST00000641891.1:c.*273A>T | ENSP00000493288.1:n.*273A>T | |
| ENST00000641927.1:n.387A>T | ||
| ENST00000641947.1:c.447A>T | ENSP00000492994.1:p.Gly149= | |
| ENST00000642021.1:n.569A>T | ||
| ENST00000642041.1:c.*486A>T | ENSP00000493415.1:n.*486A>T | |
| ENST00000369407.3:c.345A>T | ENSP00000358415.3:p.Gly115= | |
| ENST00000369409.8:c.447A>T | ENSP00000358417.4:p.Gly149= | |
| ENST00000462324.1:n.715A>T | ||
| ENST00000493622.5:n.636A>T | ||
| NM_006623.3:c.447A>T | NP_006614.2:p.Gly149= | |
| XM_011541226.1:c.669A>T | XP_011539528.1:p.Gly223= | |
| XM_011541227.1:c.591A>T | XP_011539529.1:p.Gly197= | |
| XM_011541228.1:c.558A>T | XP_011539530.1:p.Gly186= | |
| XM_011541229.1:c.384A>T | XP_011539531.1:p.Gly128= | |
| XM_011541230.1:c.162A>T | XP_011539532.1:p.Gly54= | |
| XM_011541231.1:c.153A>T | XP_011539533.1:p.Gly51= | |
| XM_011541226.2:c.669A>T | XP_011539528.1:p.Gly223= | |
| XM_011541227.2:c.591A>T | XP_011539529.1:p.Gly197= | |
| XM_011541228.2:c.558A>T | XP_011539530.1:p.Gly186= | |
| XM_011541231.2:c.153A>T | XP_011539533.1:p.Gly51= | |
| XM_024446338.1:c.558A>T | XP_024302106.1:p.Gly186= | |
| NM_006623.4:c.447A>T MANE Select | NP_006614.2:p.Gly149= |