Linked Data
ClinVar Variation Id:
382478
dbSNP Id:
rs143913650
ExAC:
2:211471498 C / T
gnomAD v2:
2-211471498-C-T
gnomAD v3:
2-210606774-C-T
gnomAD v4:
2-210606774-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210606774C>T , CM000664.2:g.210606774C>T | GRCh38 |
| NC_000002.11:g.211471498C>T , CM000664.1:g.211471498C>T | GRCh37 |
| NC_000002.10:g.211179743C>T | NCBI36 |
| NG_008285.1:g.134090C>T , LRG_336:g.134090C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233072.10:c.2025C>T MANE Select | ENSP00000233072.5:p.Ala675= | |
| ENST00000430249.7:c.2043C>T | ENSP00000402608.2:p.Ala681= | |
| ENST00000451903.3:c.672C>T | ENSP00000406136.2:p.Ala224= | |
| ENST00000673510.1:c.2025C>T | ENSP00000500537.1:p.Ala675= | |
| ENST00000673630.1:c.2025C>T | ENSP00000501073.1:p.Ala675= | |
| ENST00000673698.1:c.505C>T | ||
| ENST00000673711.1:c.2025C>T | ENSP00000501022.1:p.Ala675= | |
| ENST00000674074.1:n.1170C>T | ||
| ENST00000233072.9:c.2025C>T | ENSP00000233072.5:p.Ala675= | |
| ENST00000430249.6:c.2043C>T | ENSP00000402608.2:p.Ala681= | |
| ENST00000451903.2:c.672C>T | ENSP00000406136.2:p.Ala224= | |
| NM_001122633.2:c.2043C>T | NP_001116105.1:p.Ala681= | |
| NM_001122634.3:c.672C>T | NP_001116106.1:p.Ala224= | |
| NM_001875.4:c.2025C>T , LRG_336t1:c.2025C>T | NP_001866.2:p.Ala675= | |
| XM_011510640.1:c.2058C>T | XP_011508942.1:p.Ala686= | |
| XM_011510641.1:c.2025C>T | XP_011508943.1:p.Ala675= | |
| XM_011510642.1:c.2025C>T | XP_011508944.1:p.Ala675= | |
| XM_011510643.1:c.2025C>T | XP_011508945.1:p.Ala675= | |
| XM_011510644.1:c.2025C>T | XP_011508946.1:p.Ala675= | |
| NM_001122633.3:c.2025C>T | NP_001116105.2:p.Ala675= | |
| NM_001369256.1:c.2058C>T | NP_001356185.1:p.Ala686= | |
| NM_001369257.1:c.2025C>T | NP_001356186.1:p.Ala675= | |
| NM_001875.5:c.2025C>T MANE Select | NP_001866.2:p.Ala675= | |
| NR_161225.1:n.2934C>T | ||
| NR_163592.1:n.1181C>T |