Linked Data
ClinVar Variation Id:
2419
ClinVar RCV Id:
RCV000002520
dbSNP Id:
rs121912592
ExAC:
2:211465360 C / T
gnomAD v2:
2-211465360-C-T
gnomAD v3:
2-210600636-C-T
gnomAD v4:
2-210600636-C-T
PubMed:
PMID:9711878
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210600636C>T , CM000664.2:g.210600636C>T | GRCh38 |
| NC_000002.11:g.211465360C>T , CM000664.1:g.211465360C>T | GRCh37 |
| NC_000002.10:g.211173605C>T | NCBI36 |
| NG_008285.1:g.127952C>T , LRG_336:g.127952C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233072.10:c.1631C>T MANE Select | ENSP00000233072.5:p.Thr544Met | |
| ENST00000430249.7:c.1649C>T | ENSP00000402608.2:p.Thr550Met | |
| ENST00000451903.3:c.278C>T | ENSP00000406136.2:p.Thr93Met | |
| ENST00000673510.1:c.1631C>T | ENSP00000500537.1:p.Thr544Met | |
| ENST00000673630.1:c.1631C>T | ENSP00000501073.1:p.Thr544Met | |
| ENST00000673698.1:c.111C>T | ||
| ENST00000673711.1:c.1631C>T | ENSP00000501022.1:p.Thr544Met | |
| ENST00000674074.1:n.776C>T | ||
| ENST00000233072.9:c.1631C>T | ENSP00000233072.5:p.Thr544Met | |
| ENST00000430249.6:c.1649C>T | ENSP00000402608.2:p.Thr550Met | |
| ENST00000451903.2:c.278C>T | ENSP00000406136.2:p.Thr93Met | |
| NM_001122633.2:c.1649C>T | NP_001116105.1:p.Thr550Met | |
| NM_001122634.3:c.278C>T | NP_001116106.1:p.Thr93Met | |
| NM_001875.4:c.1631C>T , LRG_336t1:c.1631C>T | NP_001866.2:p.Thr544Met | |
| XM_011510640.1:c.1664C>T | XP_011508942.1:p.Thr555Met | |
| XM_011510641.1:c.1631C>T | XP_011508943.1:p.Thr544Met | |
| XM_011510642.1:c.1631C>T | XP_011508944.1:p.Thr544Met | |
| XM_011510643.1:c.1631C>T | XP_011508945.1:p.Thr544Met | |
| XM_011510644.1:c.1631C>T | XP_011508946.1:p.Thr544Met | |
| NM_001122633.3:c.1631C>T | NP_001116105.2:p.Thr544Met | |
| NM_001369256.1:c.1664C>T | NP_001356185.1:p.Thr555Met | |
| NM_001369257.1:c.1631C>T | NP_001356186.1:p.Thr544Met | |
| NM_001875.5:c.1631C>T MANE Select | NP_001866.2:p.Thr544Met | |
| NR_161225.1:n.2540C>T | ||
| NR_163592.1:n.787C>T |