Linked Data
ClinVar Variation Id:
1767679
ClinVar RCV Id:
RCV002376507
dbSNP Id:
rs863223858
gnomAD v3:
3-30672147-T-C
gnomAD v4:
3-30672147-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672147T>C , CM000665.2:g.30672147T>C | GRCh38 |
| NC_000003.11:g.30713639T>C , CM000665.1:g.30713639T>C | GRCh37 |
| NC_000003.10:g.30688643T>C | NCBI36 |
| NG_007490.1:g.70646T>C , LRG_779:g.70646T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.964T>C MANE Select | ENSP00000295754.5:p.Trp322Arg | |
| ENST00000672866.1:n.2560T>C | ||
| ENST00000295754.9:c.964T>C | ENSP00000295754.5:p.Trp322Arg | |
| ENST00000359013.4:c.1039T>C | ENSP00000351905.4:p.Trp347Arg | |
| NM_001024847.2:c.1039T>C , LRG_779t1:c.1039T>C | NP_001020018.1:p.Trp347Arg | |
| NM_003242.5:c.964T>C | NP_003233.4:p.Trp322Arg | |
| XM_011534043.1:c.991T>C | XP_011532345.1:p.Trp331Arg | |
| XM_011534044.1:c.916T>C | XP_011532346.1:p.Trp306Arg | |
| XM_011534045.1:c.859T>C | XP_011532347.1:p.Trp287Arg | |
| XM_011534043.2:c.991T>C | XP_011532345.1:p.Trp331Arg | |
| XM_011534045.3:c.859T>C | XP_011532347.1:p.Trp287Arg | |
| XM_017007106.1:c.859T>C | XP_016862595.1:p.Trp287Arg | |
| NM_003242.6:c.964T>C MANE Select | NP_003233.4:p.Trp322Arg |