Linked Data
ClinVar Variation Id:
44271
dbSNP Id:
rs150370918
ExAC:
2:220285273 C / T
gnomAD v2:
2-220285273-C-T
gnomAD v3:
2-219420551-C-T
gnomAD v4:
2-219420551-C-T
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420551C>T , CM000664.2:g.219420551C>T | GRCh38 |
| NC_000002.11:g.220285273C>T , CM000664.1:g.220285273C>T | GRCh37 |
| NC_000002.10:g.219993517C>T | NCBI36 |
| NG_008043.1:g.7175C>T , LRG_380:g.7175C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.266C>T | ||
| ENST00000683013.1:n.180C>T | ||
| ENST00000373960.4:c.792C>T MANE Select | ENSP00000363071.3:p.Asp264= | |
| ENST00000373960.3:c.792C>T | ENSP00000363071.3:p.Asp264= | |
| ENST00000477226.5:n.264C>T | ||
| ENST00000492726.1:n.187C>T | ||
| NM_001927.3:c.792C>T , LRG_380t1:c.792C>T | NP_001918.3:p.Asp264= | |
| NM_001927.4:c.792C>T MANE Select | NP_001918.3:p.Asp264= | |
| NM_001382708.1:c.789C>T | NP_001369637.1:p.Asp263= | |
| NM_001382709.1:c.735+205C>T | NP_001369638.1:n.735+205C>T | |
| NM_001382710.1:c.792C>T | NP_001369639.1:p.Asp264= | |
| NM_001382711.1:c.792C>T | NP_001369640.1:p.Asp264= | |
| NM_001382712.1:c.792C>T | NP_001369641.1:p.Asp264= | |
| NM_001382713.1:c.522C>T | NP_001369642.1:p.Asp174= |