Linked Data
ClinVar Variation Id:
1361773
ClinVar RCV Id:
RCV001899846
dbSNP Id:
rs774443865
ExAC:
2:233398792 T / C
gnomAD v2:
2-233398792-T-C
gnomAD v4:
2-232534082-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232534082T>C , CM000664.2:g.232534082T>C | GRCh38 |
| NC_000002.11:g.233398792T>C , CM000664.1:g.233398792T>C | GRCh37 |
| NC_000002.10:g.233107036T>C | NCBI36 |
| NG_008028.1:g.12871T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1199T>C MANE Select | ENSP00000258385.3:p.Met400Thr | |
| ENST00000258385.7:c.1199T>C | ENSP00000258385.3:p.Met400Thr | |
| ENST00000441621.6:c.*381T>C | ENSP00000408819.2:n.*381T>C | |
| ENST00000446616.1:c.*840T>C | ENSP00000410801.1:n.*840T>C | |
| ENST00000543200.5:c.1154T>C | ENSP00000438380.1:p.Met385Thr | |
| NM_000751.2:c.1199T>C | NP_000742.1:p.Met400Thr | |
| NM_001256657.1:c.1154T>C | NP_001243586.1:p.Met385Thr | |
| NM_001311195.1:c.617T>C | NP_001298124.1:p.Met206Thr | |
| NM_001311196.1:c.896T>C | NP_001298125.1:p.Met299Thr | |
| NR_046333.1:c.-4294966352T>C | ||
| NR_046334.1:c.-4294966073T>C | ||
| XM_011510524.1:c.818T>C | XP_011508826.1:p.Met273Thr | |
| XM_011510524.2:c.818T>C | XP_011508826.1:p.Met273Thr | |
| NM_000751.3:c.1199T>C MANE Select | NP_000742.1:p.Met400Thr | |
| NM_001311195.2:c.617T>C | NP_001298124.1:p.Met206Thr | |
| NM_001311196.2:c.896T>C | NP_001298125.1:p.Met299Thr | |
| NM_001256657.2:c.1154T>C | NP_001243586.1:p.Met385Thr |