Linked Data
ClinVar Variation Id:
140739
ClinVar RCV Id:
RCV000128851
dbSNP Id:
rs587777569
PubMed:
PMID:24829207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49585963A>G , CM000676.2:g.49585963A>G | GRCh38 |
| NC_000014.8:g.50052681A>G , CM000676.1:g.50052681A>G | GRCh37 |
| NC_000014.7:g.49122431A>G | NCBI36 |
| NG_050638.2:g.17748T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245458.11:c.149T>C MANE Select | ENSP00000245458.7:p.Ile50Thr | |
| ENST00000554075.2:c.149T>C | ENSP00000496485.1:p.Ile50Thr | |
| ENST00000556230.2:c.149T>C | ENSP00000495033.1:p.Ile50Thr | |
| ENST00000245458.10:c.149T>C | ENSP00000245458.6:p.Ile50Thr | |
| ENST00000396020.7:c.149T>C | ENSP00000379339.3:p.Ile50Thr | |
| ENST00000554075.1:n.161T>C | ||
| ENST00000556230.1:n.179T>C | ||
| ENST00000557111.5:c.140T>C | ENSP00000478117.1:p.Ile47Thr | |
| ENST00000557367.2:n.389T>C | ||
| ENST00000557519.1:n.128T>C | ||
| ENST00000611563.1:c.149T>C | ENSP00000479892.1:p.Ile50Thr | |
| NM_001030001.2:c.149T>C | NP_001025172.1:p.Ile50Thr | |
| NM_001032.4:c.149T>C | NP_001023.1:p.Ile50Thr | |
| NM_001030001.3:c.149T>C | NP_001025172.1:p.Ile50Thr | |
| NM_001351375.1:c.140T>C | NP_001338304.1:p.Ile47Thr | |
| NM_001030001.4:c.149T>C | NP_001025172.1:p.Ile50Thr | |
| NM_001032.5:c.149T>C MANE Select | NP_001023.1:p.Ile50Thr | |
| NM_001351375.2:c.140T>C | NP_001338304.1:p.Ile47Thr |