Linked Data
ClinVar Variation Id:
130349
dbSNP Id:
rs5400
ExAC:
3:170732300 G / A
gnomAD v2:
3-170732300-G-A
gnomAD v3:
3-171014511-G-A
gnomAD v4:
3-171014511-G-A
PubMed:
PMID:8063045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.171014511G>A , CM000665.2:g.171014511G>A | GRCh38 |
| NC_000003.11:g.170732300G>A , CM000665.1:g.170732300G>A | GRCh37 |
| NC_000003.10:g.172214994G>A | NCBI36 |
| NG_008108.1:g.17469C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314251.8:c.329C>T MANE Select | ENSP00000323568.3:p.Thr110Ile | |
| ENST00000314251.7:c.329C>T | ENSP00000323568.3:p.Thr110Ile | |
| ENST00000461867.1:c.-24+4020C>T | ENSP00000418888.1:n.-24+4020C>T | |
| ENST00000469787.1:c.108+4020C>T | ENSP00000417918.1:n.108+4020C>T | |
| ENST00000497642.5:c.329C>T | ENSP00000418456.1:p.Thr110Ile | |
| NM_000340.1:c.329C>T | NP_000331.1:p.Thr110Ile | |
| NM_001278658.1:c.14+4020C>T | NP_001265587.1:n.14+4020C>T | |
| NM_001278659.1:c.-66C>T | NP_001265588.1:n.-66C>T | |
| XM_011513087.1:c.284C>T | XP_011511389.1:p.Thr95Ile | |
| XM_011513088.1:c.110C>T | XP_011511390.1:p.Thr37Ile | |
| XM_011513089.1:c.-24+4020C>T | XP_011511391.1:n.-24+4020C>T | |
| XM_011513087.2:c.284C>T | XP_011511389.1:p.Thr95Ile | |
| XM_024453720.1:c.-24+4020C>T | XP_024309488.1:n.-24+4020C>T | |
| NM_000340.2:c.329C>T MANE Select | NP_000331.1:p.Thr110Ile | |
| NM_001278658.2:c.14+4020C>T | NP_001265587.1:n.14+4020C>T | |
| NM_001278659.2:c.-66C>T | NP_001265588.1:n.-66C>T |