Linked Data
dbSNP Id:
rs779238628
gnomAD v3:
3-30672017-C-A
gnomAD v4:
3-30672017-C-A
MyVariant Identifiers:
chr3:g.30713509C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672017C>A , CM000665.2:g.30672017C>A | GRCh38 |
| NC_000003.11:g.30713509C>A , CM000665.1:g.30713509C>A | GRCh37 |
| NC_000003.10:g.30688513C>A | NCBI36 |
| NG_007490.1:g.70516C>A , LRG_779:g.70516C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.834C>A MANE Select | ENSP00000295754.5:p.Ile278= | |
| ENST00000672866.1:n.2430C>A | ||
| ENST00000295754.9:c.834C>A | ENSP00000295754.5:p.Ile278= | |
| ENST00000359013.4:c.909C>A | ENSP00000351905.4:p.Ile303= | |
| NM_001024847.2:c.909C>A , LRG_779t1:c.909C>A | NP_001020018.1:p.Ile303= | |
| NM_003242.5:c.834C>A | NP_003233.4:p.Ile278= | |
| XM_011534043.1:c.861C>A | XP_011532345.1:p.Ile287= | |
| XM_011534044.1:c.786C>A | XP_011532346.1:p.Ile262= | |
| XM_011534045.1:c.729C>A | XP_011532347.1:p.Ile243= | |
| XM_011534043.2:c.861C>A | XP_011532345.1:p.Ile287= | |
| XM_011534045.3:c.729C>A | XP_011532347.1:p.Ile243= | |
| XM_017007106.1:c.729C>A | XP_016862595.1:p.Ile243= | |
| NM_003242.6:c.834C>A MANE Select | NP_003233.4:p.Ile278= |