Linked Data
ClinVar Variation Id:
36869
ClinVar RCV Id:
RCV000030551
RCV000199728
RCV000250810
RCV000361254
RCV001090474
RCV002277111
RCV003996148
RCV003914874
dbSNP Id:
rs193922666
ExAC:
3:30713659 C / T
gnomAD v2:
3-30713659-C-T
gnomAD v3:
3-30672167-C-T
gnomAD v4:
3-30672167-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672167C>T , CM000665.2:g.30672167C>T | GRCh38 |
| NC_000003.11:g.30713659C>T , CM000665.1:g.30713659C>T | GRCh37 |
| NC_000003.10:g.30688663C>T | NCBI36 |
| NG_007490.1:g.70666C>T , LRG_779:g.70666C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.984C>T MANE Select | ENSP00000295754.5:p.His328= | |
| ENST00000672866.1:n.2580C>T | ||
| ENST00000295754.9:c.984C>T | ENSP00000295754.5:p.His328= | |
| ENST00000359013.4:c.1059C>T | ENSP00000351905.4:p.His353= | |
| NM_001024847.2:c.1059C>T , LRG_779t1:c.1059C>T | NP_001020018.1:p.His353= | |
| NM_003242.5:c.984C>T | NP_003233.4:p.His328= | |
| XM_011534043.1:c.1011C>T | XP_011532345.1:p.His337= | |
| XM_011534044.1:c.936C>T | XP_011532346.1:p.His312= | |
| XM_011534045.1:c.879C>T | XP_011532347.1:p.His293= | |
| XM_011534043.2:c.1011C>T | XP_011532345.1:p.His337= | |
| XM_011534045.3:c.879C>T | XP_011532347.1:p.His293= | |
| XM_017007106.1:c.879C>T | XP_016862595.1:p.His293= | |
| NM_003242.6:c.984C>T MANE Select | NP_003233.4:p.His328= |