Linked Data
ClinVar Variation Id:
2420
ClinVar RCV Id:
RCV000002521
dbSNP Id:
rs121912593
gnomAD v4:
2-210573301-C-T
PubMed:
PMID:17310273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210573301C>T , CM000664.2:g.210573301C>T | GRCh38 |
| NC_000002.11:g.211438025C>T , CM000664.1:g.211438025C>T | GRCh37 |
| NC_000002.10:g.211146270C>T | NCBI36 |
| NG_008285.1:g.100617C>T , LRG_336:g.100617C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233072.10:c.130C>T MANE Select | ENSP00000233072.5:p.Gln44Ter | |
| ENST00000430249.7:c.148C>T | ENSP00000402608.2:p.Gln50Ter | |
| ENST00000673510.1:c.130C>T | ENSP00000500537.1:p.Gln44Ter | |
| ENST00000673630.1:c.130C>T | ENSP00000501073.1:p.Gln44Ter | |
| ENST00000673711.1:c.130C>T | ENSP00000501022.1:p.Gln44Ter | |
| ENST00000233072.9:c.130C>T | ENSP00000233072.5:p.Gln44Ter | |
| ENST00000417946.5:c.130C>T | ENSP00000388496.1:p.Gln44Ter | |
| ENST00000430249.6:c.148C>T | ENSP00000402608.2:p.Gln50Ter | |
| ENST00000518043.5:c.130C>T | ENSP00000430697.1:p.Gln44Ter | |
| ENST00000523702.5:c.148C>T | ENSP00000430644.1:p.Gln50Ter | |
| ENST00000619804.1:c.130C>T | ENSP00000480517.1:p.Gln44Ter | |
| NM_001122633.2:c.148C>T | NP_001116105.1:p.Gln50Ter | |
| NM_001875.4:c.130C>T , LRG_336t1:c.130C>T | NP_001866.2:p.Gln44Ter | |
| XM_011510640.1:c.163C>T | XP_011508942.1:p.Gln55Ter | |
| XM_011510641.1:c.130C>T | XP_011508943.1:p.Gln44Ter | |
| XM_011510642.1:c.130C>T | XP_011508944.1:p.Gln44Ter | |
| XM_011510643.1:c.130C>T | XP_011508945.1:p.Gln44Ter | |
| XM_011510644.1:c.130C>T | XP_011508946.1:p.Gln44Ter | |
| NM_001122633.3:c.130C>T | NP_001116105.2:p.Gln44Ter | |
| NM_001369256.1:c.163C>T | NP_001356185.1:p.Gln55Ter | |
| NM_001369257.1:c.130C>T | NP_001356186.1:p.Gln44Ter | |
| NM_001875.5:c.130C>T MANE Select | NP_001866.2:p.Gln44Ter | |
| NR_161225.1:n.1042C>T |