Linked Data
ClinVar Variation Id:
1348
ClinVar RCV Id:
RCV000001413
dbSNP Id:
rs121918220
ExAC:
1:116226601 T / C
gnomAD v2:
1-116226601-T-C
gnomAD v3:
1-115683980-T-C
gnomAD v4:
1-115683980-T-C
PubMed:
PMID:17409324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115683980T>C , CM000663.2:g.115683980T>C | GRCh38 |
| NC_000001.10:g.116226601T>C , CM000663.1:g.116226601T>C | GRCh37 |
| NC_000001.9:g.116028124T>C | NCBI36 |
| NG_016548.1:g.47028T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355485.7:c.983T>C MANE Select | ENSP00000347672.2:p.Met328Thr | |
| ENST00000310260.7:c.983T>C | ENSP00000310800.3:p.Met328Thr | |
| ENST00000355485.6:c.983T>C | ENSP00000347672.2:p.Met328Thr | |
| ENST00000369509.1:c.983T>C | ENSP00000358522.1:p.Met328Thr | |
| ENST00000369510.8:c.977T>C | ENSP00000358523.3:p.Met326Thr | |
| ENST00000474344.1:n.365T>C | ||
| ENST00000478369.5:n.267T>C | ||
| NM_001172411.1:c.977T>C | NP_001165882.1:p.Met326Thr | |
| NM_001172412.1:c.983T>C | NP_001165883.1:p.Met328Thr | |
| NM_138959.2:c.983T>C | NP_620409.1:p.Met328Thr | |
| NM_138959.3:c.983T>C MANE Select | NP_620409.1:p.Met328Thr | |
| NM_001172411.2:c.977T>C | NP_001165882.1:p.Met326Thr | |
| NM_001172412.2:c.983T>C | NP_001165883.1:p.Met328Thr |