Linked Data
ClinVar Variation Id:
6860
ClinVar RCV Id:
RCV000007263
dbSNP Id:
rs121434432
gnomAD v4:
16-1449282-G-A
PubMed:
PMID:11207362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1449282G>A , CM000678.2:g.1449282G>A | GRCh38 |
| NC_000016.9:g.1499283G>A , CM000678.1:g.1499283G>A | GRCh37 |
| NC_000016.8:g.1439284G>A | NCBI36 |
| NG_007567.1:g.30803C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699947.1:c.1663C>T | ENSP00000514703.1:p.Gln555Ter | |
| ENST00000699948.1:c.1624-189C>T | ENSP00000514704.1:n.1624-189C>T | |
| ENST00000382745.9:c.1663C>T MANE Select | ENSP00000372193.4:p.Gln555Ter | |
| ENST00000262318.12:c.1591C>T | ENSP00000262318.8:p.Gln531Ter | |
| ENST00000382745.8:c.1663C>T | ENSP00000372193.4:p.Gln555Ter | |
| ENST00000448525.5:c.1591C>T | ENSP00000410907.1:p.Gln531Ter | |
| ENST00000563642.6:n.1732C>T | ||
| ENST00000565092.6:n.516C>T | ||
| NM_001114331.2:c.1591C>T | NP_001107803.1:p.Gln531Ter | |
| NM_001287.5:c.1663C>T | NP_001278.1:p.Gln555Ter | |
| XM_011522354.1:c.1489C>T | XP_011520656.1:p.Gln497Ter | |
| NM_001287.6:c.1663C>T MANE Select | NP_001278.1:p.Gln555Ter | |
| NM_001114331.3:c.1591C>T | NP_001107803.1:p.Gln531Ter |