Linked Data
ClinVar Variation Id:
1303799
ClinVar RCV Id:
RCV001758092
dbSNP Id:
rs113474008
gnomAD v4:
3-30623237-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30623237C>T , CM000665.2:g.30623237C>T | GRCh38 |
| NC_000003.11:g.30664729C>T , CM000665.1:g.30664729C>T | GRCh37 |
| NC_000003.10:g.30639733C>T | NCBI36 |
| NG_007490.1:g.21736C>T , LRG_779:g.21736C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.94+16260C>T MANE Select | ENSP00000295754.5:n.94+16260C>T | |
| ENST00000673250.1:n.182C>T | ||
| ENST00000295754.9:c.94+16260C>T | ENSP00000295754.5:n.94+16260C>T | |
| ENST00000359013.4:c.133C>T | ENSP00000351905.4:p.Pro45Ser | |
| NM_001024847.2:c.133C>T , LRG_779t1:c.133C>T | NP_001020018.1:p.Pro45Ser | |
| NM_003242.5:c.94+16260C>T | NP_003233.4:n.94+16260C>T | |
| XM_011534043.1:c.85C>T | XP_011532345.1:p.Pro29Ser | |
| XM_011534044.1:c.46+8531C>T | XP_011532346.1:n.46+8531C>T | |
| XM_011534045.1:c.-12+16644C>T | XP_011532347.1:n.-12+16644C>T | |
| XM_011534043.2:c.85C>T | XP_011532345.1:p.Pro29Ser | |
| XM_011534045.3:c.-12+16644C>T | XP_011532347.1:n.-12+16644C>T | |
| NM_003242.6:c.94+16260C>T MANE Select | NP_003233.4:n.94+16260C>T |