Linked Data
ClinVar Variation Id:
2922965
ClinVar RCV Id:
RCV003788131
dbSNP Id:
rs1257218945
gnomAD v2:
2-220283643-G-C
gnomAD v3:
2-219418921-G-C
gnomAD v4:
2-219418921-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219418921G>C , CM000664.2:g.219418921G>C | GRCh38 |
| NC_000002.11:g.220283643G>C , CM000664.1:g.220283643G>C | GRCh37 |
| NC_000002.10:g.219991887G>C | NCBI36 |
| NG_008043.1:g.5545G>C , LRG_380:g.5545G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373960.4:c.459G>C MANE Select | ENSP00000363071.3:p.Glu153Asp | |
| ENST00000373960.3:c.459G>C | ENSP00000363071.3:p.Glu153Asp | |
| NM_001927.3:c.459G>C , LRG_380t1:c.459G>C | NP_001918.3:p.Glu153Asp | |
| NM_001927.4:c.459G>C MANE Select | NP_001918.3:p.Glu153Asp | |
| NM_001382708.1:c.459G>C | NP_001369637.1:p.Glu153Asp | |
| NM_001382709.1:c.459G>C | NP_001369638.1:p.Glu153Asp | |
| NM_001382710.1:c.459G>C | NP_001369639.1:p.Glu153Asp | |
| NM_001382711.1:c.459G>C | NP_001369640.1:p.Glu153Asp | |
| NM_001382712.1:c.459G>C | NP_001369641.1:p.Glu153Asp | |
| NM_001382713.1:c.459G>C | NP_001369642.1:p.Glu153Asp |