Linked Data
ClinVar Variation Id:
407053
dbSNP Id:
rs748243732
ExAC:
1:161284202 G / T
gnomAD v2:
1-161284202-G-T
gnomAD v4:
1-161314412-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161314412G>T , CM000663.2:g.161314412G>T | GRCh38 |
| NC_000001.10:g.161284202G>T , CM000663.1:g.161284202G>T | GRCh37 |
| NC_000001.9:g.159550826G>T | NCBI36 |
| NG_008055.1:g.561C>A , LRG_256:g.561C>A | |
| NG_012767.1:g.5037G>T , LRG_317:g.5037G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.7G>T | ENSP00000482902.2:p.Ala3Ser | |
| ENST00000367975.7:c.7G>T MANE Select | ENSP00000356953.3:p.Ala3Ser | |
| ENST00000342751.8:c.7G>T | ENSP00000356952.3:p.Ala3Ser | |
| ENST00000367975.6:c.7G>T | ENSP00000356953.2:p.Ala3Ser | |
| ENST00000392169.6:c.7G>T | ENSP00000376009.2:p.Ala3Ser | |
| ENST00000432287.6:c.7G>T | ENSP00000390558.2:p.Ala3Ser | |
| ENST00000504963.5:c.7G>T | ENSP00000423929.1:p.Ala3Ser | |
| ENST00000513009.5:c.7G>T | ENSP00000423260.1:p.Ala3Ser | |
| ENST00000515731.1:n.32G>T | ||
| NM_001035511.1:c.7G>T | NP_001030588.1:p.Ala3Ser | |
| NM_001035512.1:c.7G>T | NP_001030589.1:p.Ala3Ser | |
| NM_001035513.1:c.7G>T | NP_001030590.1:p.Ala3Ser | |
| NM_001278172.1:c.7G>T | NP_001265101.1:p.Ala3Ser | |
| NM_003001.3:c.7G>T , LRG_317t1:c.7G>T | NP_002992.1:p.Ala3Ser | |
| NR_103459.1:n.37G>T | ||
| NM_001035511.2:c.7G>T | NP_001030588.1:p.Ala3Ser | |
| NM_001035512.2:c.7G>T | NP_001030589.1:p.Ala3Ser | |
| NM_001035513.2:c.7G>T | NP_001030590.1:p.Ala3Ser | |
| NM_001278172.2:c.7G>T | NP_001265101.1:p.Ala3Ser | |
| NM_003001.5:c.7G>T MANE Select | NP_002992.1:p.Ala3Ser | |
| NR_103459.2:n.32G>T |