Linked Data
ClinVar Variation Id:
180186
ClinVar RCV Id:
RCV000157038
dbSNP Id:
rs368743618
ExAC:
2:220115274 C / T
gnomAD v2:
2-220115274-C-T
gnomAD v3:
2-219250552-C-T
gnomAD v4:
2-219250552-C-T
PubMed:
PMID:25374358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219250552C>T , CM000664.2:g.219250552C>T | GRCh38 |
| NC_000002.11:g.220115274C>T , CM000664.1:g.220115274C>T | GRCh37 |
| NC_000002.10:g.219823518C>T | NCBI36 |
| NG_029913.1:g.8365G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248437.9:c.1147G>A MANE Select | ENSP00000248437.4:p.Ala383Thr | |
| ENST00000248437.8:c.1147G>A | ENSP00000248437.4:p.Ala383Thr | |
| ENST00000392088.6:c.1102G>A | ENSP00000375938.2:p.Ala368Thr | |
| NM_001278552.1:c.1102G>A | NP_001265481.1:p.Ala368Thr | |
| NM_006000.2:c.1147G>A | NP_005991.1:p.Ala383Thr | |
| XM_005246832.1:c.1102G>A | XP_005246889.1:p.Ala368Thr | |
| XM_017004824.1:c.688G>A | XP_016860313.1:p.Ala230Thr | |
| NM_006000.3:c.1147G>A MANE Select | NP_005991.1:p.Ala383Thr | |
| NM_001278552.2:c.1102G>A | NP_001265481.1:p.Ala368Thr |