Linked Data
ClinVar Variation Id:
334010
ClinVar RCV Id:
RCV000323691
dbSNP Id:
rs529836556
ExAC:
2:211438081 C / T
gnomAD v2:
2-211438081-C-T
gnomAD v3:
2-210573357-C-T
gnomAD v4:
2-210573357-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210573357C>T , CM000664.2:g.210573357C>T | GRCh38 |
| NC_000002.11:g.211438081C>T , CM000664.1:g.211438081C>T | GRCh37 |
| NC_000002.10:g.211146326C>T | NCBI36 |
| NG_008285.1:g.100673C>T , LRG_336:g.100673C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233072.10:c.186C>T MANE Select | ENSP00000233072.5:p.Gly62= | |
| ENST00000430249.7:c.204C>T | ENSP00000402608.2:p.Gly68= | |
| ENST00000673510.1:c.186C>T | ENSP00000500537.1:p.Gly62= | |
| ENST00000673630.1:c.186C>T | ENSP00000501073.1:p.Gly62= | |
| ENST00000673711.1:c.186C>T | ENSP00000501022.1:p.Gly62= | |
| ENST00000233072.9:c.186C>T | ENSP00000233072.5:p.Gly62= | |
| ENST00000417946.5:c.186C>T | ENSP00000388496.1:p.Gly62= | |
| ENST00000430249.6:c.204C>T | ENSP00000402608.2:p.Gly68= | |
| ENST00000518043.5:c.186C>T | ENSP00000430697.1:p.Gly62= | |
| ENST00000523702.5:c.204C>T | ENSP00000430644.1:p.Gly68= | |
| ENST00000619804.1:c.186C>T | ENSP00000480517.1:p.Gly62= | |
| NM_001122633.2:c.204C>T | NP_001116105.1:p.Gly68= | |
| NM_001875.4:c.186C>T , LRG_336t1:c.186C>T | NP_001866.2:p.Gly62= | |
| XM_011510640.1:c.219C>T | XP_011508942.1:p.Gly73= | |
| XM_011510641.1:c.186C>T | XP_011508943.1:p.Gly62= | |
| XM_011510642.1:c.186C>T | XP_011508944.1:p.Gly62= | |
| XM_011510643.1:c.186C>T | XP_011508945.1:p.Gly62= | |
| XM_011510644.1:c.186C>T | XP_011508946.1:p.Gly62= | |
| NM_001122633.3:c.186C>T | NP_001116105.2:p.Gly62= | |
| NM_001369256.1:c.219C>T | NP_001356185.1:p.Gly73= | |
| NM_001369257.1:c.186C>T | NP_001356186.1:p.Gly62= | |
| NM_001875.5:c.186C>T MANE Select | NP_001866.2:p.Gly62= | |
| NR_161225.1:n.1098C>T |