Linked Data
ClinVar Variation Id:
553356
ClinVar RCV Id:
RCV000668782
dbSNP Id:
rs121912595
ExAC:
2:211504769 G / T
gnomAD v2:
2-211504769-G-T
gnomAD v3:
2-210640045-G-T
gnomAD v4:
2-210640045-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210640045G>T , CM000664.2:g.210640045G>T | GRCh38 |
| NC_000002.11:g.211504769G>T , CM000664.1:g.211504769G>T | GRCh37 |
| NC_000002.10:g.211213014G>T | NCBI36 |
| NG_008285.1:g.167361G>T , LRG_336:g.167361G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233072.10:c.2945G>T MANE Select | ENSP00000233072.5:p.Gly982Val | |
| ENST00000430249.7:c.2963G>T | ENSP00000402608.2:p.Gly988Val | |
| ENST00000451903.3:c.1592G>T | ENSP00000406136.2:p.Gly531Val | |
| ENST00000673510.1:c.2945G>T | ENSP00000500537.1:p.Gly982Val | |
| ENST00000673630.1:c.2945G>T | ENSP00000501073.1:p.Gly982Val | |
| ENST00000673698.1:c.1425G>T | ||
| ENST00000673711.1:c.2945G>T | ENSP00000501022.1:p.Gly982Val | |
| ENST00000674074.1:n.2090G>T | ||
| ENST00000233072.9:c.2945G>T | ENSP00000233072.5:p.Gly982Val | |
| ENST00000430249.6:c.2963G>T | ENSP00000402608.2:p.Gly988Val | |
| ENST00000451903.2:c.1592G>T | ENSP00000406136.2:p.Gly531Val | |
| ENST00000497121.1:n.317G>T | ||
| NM_001122633.2:c.2963G>T | NP_001116105.1:p.Gly988Val | |
| NM_001122634.3:c.1592G>T | NP_001116106.1:p.Gly531Val | |
| NM_001875.4:c.2945G>T , LRG_336t1:c.2945G>T | NP_001866.2:p.Gly982Val | |
| XM_011510640.1:c.2978G>T | XP_011508942.1:p.Gly993Val | |
| XM_011510641.1:c.2945G>T | XP_011508943.1:p.Gly982Val | |
| XM_011510642.1:c.2945G>T | XP_011508944.1:p.Gly982Val | |
| XM_011510643.1:c.2945G>T | XP_011508945.1:p.Gly982Val | |
| XM_011510644.1:c.2945G>T | XP_011508946.1:p.Gly982Val | |
| NM_001122633.3:c.2945G>T | NP_001116105.2:p.Gly982Val | |
| NM_001369256.1:c.2978G>T | NP_001356185.1:p.Gly993Val | |
| NM_001369257.1:c.2945G>T | NP_001356186.1:p.Gly982Val | |
| NM_001875.5:c.2945G>T MANE Select | NP_001866.2:p.Gly982Val | |
| NR_161225.1:n.3854G>T | ||
| NR_163592.1:n.2101G>T |