Linked Data
ClinVar Variation Id:
2448126
ClinVar RCV Id:
RCV003181483
dbSNP Id:
rs761077266
ExAC:
4:41747941 G / T
gnomAD v2:
4-41747941-G-T
gnomAD v4:
4-41745924-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745924G>T , CM000666.2:g.41745924G>T | GRCh38 |
| NC_000004.11:g.41747941G>T , CM000666.1:g.41747941G>T | GRCh37 |
| NC_000004.10:g.41442698G>T | NCBI36 |
| NG_008243.1:g.8047C>A , LRG_513:g.8047C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.828C>A MANE Select | ENSP00000226382.2:p.Gly276= | |
| ENST00000226382.3:c.828C>A | ENSP00000226382.2:p.Gly276= | |
| NM_003924.3:c.828C>A , LRG_513t1:c.828C>A | NP_003915.2:p.Gly276= | |
| NM_003924.4:c.828C>A MANE Select | NP_003915.2:p.Gly276= |