Linked Data
ClinVar Variation Id:
213919
ClinVar RCV Id:
RCV001177559
dbSNP Id:
rs727503473
ExAC:
3:30713691 G / A
gnomAD v2:
3-30713691-G-A
gnomAD v3:
3-30672199-G-A
gnomAD v4:
3-30672199-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672199G>A , CM000665.2:g.30672199G>A | GRCh38 |
| NC_000003.11:g.30713691G>A , CM000665.1:g.30713691G>A | GRCh37 |
| NC_000003.10:g.30688695G>A | NCBI36 |
| NG_007490.1:g.70698G>A , LRG_779:g.70698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1016G>A MANE Select | ENSP00000295754.5:p.Arg339Gln | |
| ENST00000672866.1:n.2612G>A | ||
| ENST00000295754.9:c.1016G>A | ENSP00000295754.5:p.Arg339Gln | |
| ENST00000359013.4:c.1091G>A | ENSP00000351905.4:p.Arg364Gln | |
| NM_001024847.2:c.1091G>A , LRG_779t1:c.1091G>A | NP_001020018.1:p.Arg364Gln | |
| NM_003242.5:c.1016G>A | NP_003233.4:p.Arg339Gln | |
| XM_011534043.1:c.1043G>A | XP_011532345.1:p.Arg348Gln | |
| XM_011534044.1:c.968G>A | XP_011532346.1:p.Arg323Gln | |
| XM_011534045.1:c.911G>A | XP_011532347.1:p.Arg304Gln | |
| XM_011534043.2:c.1043G>A | XP_011532345.1:p.Arg348Gln | |
| XM_011534045.3:c.911G>A | XP_011532347.1:p.Arg304Gln | |
| XM_017007106.1:c.911G>A | XP_016862595.1:p.Arg304Gln | |
| NM_003242.6:c.1016G>A MANE Select | NP_003233.4:p.Arg339Gln |