Linked Data
ClinVar Variation Id:
180683
ClinVar RCV Id:
RCV000157638
dbSNP Id:
rs140015315
ExAC:
2:161052046 C / T
gnomAD v2:
2-161052046-C-T
gnomAD v3:
2-160195535-C-T
gnomAD v4:
2-160195535-C-T
COSMIC:
COSM282011
PubMed:
PMID:24305999
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.160195535C>T , CM000664.2:g.160195535C>T | GRCh38 |
| NC_000002.11:g.161052046C>T , CM000664.1:g.161052046C>T | GRCh37 |
| NC_000002.10:g.160760292C>T | NCBI36 |
| NG_042041.1:g.9779G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283249.7:c.427G>A MANE Select | ENSP00000283249.2:p.Ala143Thr | |
| ENST00000283249.6:c.427G>A | ENSP00000283249.2:p.Ala143Thr | |
| ENST00000409583.5:c.*41G>A | ENSP00000386477.1:n.*41G>A | |
| ENST00000409872.1:c.427G>A | ENSP00000386367.1:p.Ala143Thr | |
| ENST00000409967.6:c.427G>A | ENSP00000386828.2:p.Ala143Thr | |
| ENST00000428609.6:c.301G>A | ENSP00000408024.2:p.Ala101Thr | |
| ENST00000485635.1:n.748G>A | ||
| ENST00000620391.4:c.142G>A | ENSP00000481183.1:p.Ala48Thr | |
| NM_000888.4:c.427G>A | NP_000879.2:p.Ala143Thr | |
| NM_001282353.1:c.427G>A | NP_001269282.1:p.Ala143Thr | |
| NM_001282354.1:c.142G>A | NP_001269283.1:p.Ala48Thr | |
| NM_001282355.1:c.427G>A | NP_001269284.1:p.Ala143Thr | |
| NM_001282388.1:c.301G>A | NP_001269317.1:p.Ala101Thr | |
| NM_001282389.1:c.208G>A | NP_001269318.1:p.Ala70Thr | |
| NM_001282390.1:c.13G>A | NP_001269319.1:p.Ala5Thr | |
| NM_000888.5:c.427G>A MANE Select | NP_000879.2:p.Ala143Thr | |
| NM_001282353.2:c.427G>A | NP_001269282.1:p.Ala143Thr | |
| NM_001282355.2:c.427G>A | NP_001269284.1:p.Ala143Thr | |
| NM_001282388.2:c.301G>A | NP_001269317.1:p.Ala101Thr | |
| NM_001282389.2:c.208G>A | NP_001269318.1:p.Ala70Thr | |
| NM_001282390.2:c.13G>A | NP_001269319.1:p.Ala5Thr | |
| NM_001282354.2:c.142G>A | NP_001269283.1:p.Ala48Thr |