Linked Data
ClinVar Variation Id:
344674
dbSNP Id:
rs565524213
gnomAD v2:
3-30733443-A-G
gnomAD v3:
3-30691951-A-G
gnomAD v4:
3-30691951-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30691951A>G , CM000665.2:g.30691951A>G | GRCh38 |
| NC_000003.11:g.30733443A>G , CM000665.1:g.30733443A>G | GRCh37 |
| NC_000003.10:g.30708447A>G | NCBI36 |
| NG_007490.1:g.90450A>G , LRG_779:g.90450A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.*352A>G MANE Select | ENSP00000295754.5:n.*352A>G | |
| ENST00000672866.1:n.3652A>G | ||
| ENST00000673203.1:n.934A>G | ||
| ENST00000295754.9:c.*352A>G | ENSP00000295754.5:n.*352A>G | |
| ENST00000359013.4:c.*352A>G | ENSP00000351905.4:n.*352A>G | |
| NM_001024847.2:c.*352A>G , LRG_779t1:c.*352A>G | NP_001020018.1:n.*352A>G | |
| NM_003242.5:c.*352A>G | NP_003233.4:n.*352A>G | |
| XM_011534043.1:c.*352A>G | XP_011532345.1:n.*352A>G | |
| XM_011534044.1:c.*352A>G | XP_011532346.1:n.*352A>G | |
| XM_011534045.1:c.*352A>G | XP_011532347.1:n.*352A>G | |
| XM_011534043.2:c.*352A>G | XP_011532345.1:n.*352A>G | |
| XM_011534045.3:c.*352A>G | XP_011532347.1:n.*352A>G | |
| XM_017007106.1:c.*352A>G | XP_016862595.1:n.*352A>G | |
| NM_003242.6:c.*352A>G MANE Select | NP_003233.4:n.*352A>G |