Linked Data
ClinVar Variation Id:
2580039
ClinVar RCV Id:
RCV003329014
dbSNP Id:
rs144766594
ExAC:
3:30715735 G / T
gnomAD v2:
3-30715735-G-T
gnomAD v3:
3-30674243-G-T
gnomAD v4:
3-30674243-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30674243G>T , CM000665.2:g.30674243G>T | GRCh38 |
| NC_000003.11:g.30715735G>T , CM000665.1:g.30715735G>T | GRCh37 |
| NC_000003.10:g.30690739G>T | NCBI36 |
| NG_007490.1:g.72742G>T , LRG_779:g.72742G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1393G>T MANE Select | ENSP00000295754.5:p.Gly465Ter | |
| ENST00000672866.1:n.2989G>T | ||
| ENST00000673203.1:n.271G>T | ||
| ENST00000295754.9:c.1393G>T | ENSP00000295754.5:p.Gly465Ter | |
| ENST00000359013.4:c.1468G>T | ENSP00000351905.4:p.Gly490Ter | |
| NM_001024847.2:c.1468G>T , LRG_779t1:c.1468G>T | NP_001020018.1:p.Gly490Ter | |
| NM_003242.5:c.1393G>T | NP_003233.4:p.Gly465Ter | |
| XM_011534043.1:c.1420G>T | XP_011532345.1:p.Gly474Ter | |
| XM_011534044.1:c.1345G>T | XP_011532346.1:p.Gly449Ter | |
| XM_011534045.1:c.1288G>T | XP_011532347.1:p.Gly430Ter | |
| XM_011534043.2:c.1420G>T | XP_011532345.1:p.Gly474Ter | |
| XM_011534045.3:c.1288G>T | XP_011532347.1:p.Gly430Ter | |
| XM_017007106.1:c.1288G>T | XP_016862595.1:p.Gly430Ter | |
| NM_003242.6:c.1393G>T MANE Select | NP_003233.4:p.Gly465Ter |