Linked Data
ClinVar Variation Id:
374980
ClinVar RCV Id:
RCV000415648
RCV000415679
RCV000781901
RCV000765723
RCV000809777
RCV001310482
RCV003902462
dbSNP Id:
rs761991787
ExAC:
3:30713690 C / T
gnomAD v2:
3-30713690-C-T
gnomAD v3:
3-30672198-C-T
gnomAD v4:
3-30672198-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672198C>T , CM000665.2:g.30672198C>T | GRCh38 |
| NC_000003.11:g.30713690C>T , CM000665.1:g.30713690C>T | GRCh37 |
| NC_000003.10:g.30688694C>T | NCBI36 |
| NG_007490.1:g.70697C>T , LRG_779:g.70697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1015C>T MANE Select | ENSP00000295754.5:p.Arg339Trp | |
| ENST00000672866.1:n.2611C>T | ||
| ENST00000295754.9:c.1015C>T | ENSP00000295754.5:p.Arg339Trp | |
| ENST00000359013.4:c.1090C>T | ENSP00000351905.4:p.Arg364Trp | |
| NM_001024847.2:c.1090C>T , LRG_779t1:c.1090C>T | NP_001020018.1:p.Arg364Trp | |
| NM_003242.5:c.1015C>T | NP_003233.4:p.Arg339Trp | |
| XM_011534043.1:c.1042C>T | XP_011532345.1:p.Arg348Trp | |
| XM_011534044.1:c.967C>T | XP_011532346.1:p.Arg323Trp | |
| XM_011534045.1:c.910C>T | XP_011532347.1:p.Arg304Trp | |
| XM_011534043.2:c.1042C>T | XP_011532345.1:p.Arg348Trp | |
| XM_011534045.3:c.910C>T | XP_011532347.1:p.Arg304Trp | |
| XM_017007106.1:c.910C>T | XP_016862595.1:p.Arg304Trp | |
| NM_003242.6:c.1015C>T MANE Select | NP_003233.4:p.Arg339Trp |