Linked Data
ClinVar Variation Id:
221914
dbSNP Id:
rs375699023
gnomAD v4:
16-23635504-G-A
PubMed:
PMID:27067391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23635504G>A , CM000678.2:g.23635504G>A | GRCh38 |
| NC_000016.9:g.23646825G>A , CM000678.1:g.23646825G>A | GRCh37 |
| NC_000016.8:g.23554326G>A | NCBI36 |
| NG_007406.1:g.10854C>T , LRG_308:g.10854C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.1048C>T | ENSP00000460666.3:p.Gln350Ter | |
| ENST00000565038.2:c.211+2346C>T | ENSP00000459882.2:n.211+2346C>T | |
| ENST00000566069.6:c.1042C>T | ENSP00000459237.2:p.Gln348Ter | |
| ENST00000697377.2:c.1048C>T | ENSP00000513286.2:p.Gln350Ter | |
| ENST00000697379.2:c.1048C>T | ENSP00000513287.2:p.Gln350Ter | |
| ENST00000561514.2:c.157C>T | ENSP00000460666.2:p.Gln53Ter | |
| ENST00000697374.1:c.157C>T | ENSP00000513284.1:p.Gln53Ter | |
| ENST00000697375.1:n.2389C>T | ||
| ENST00000697376.1:c.157C>T | ENSP00000513285.1:p.Gln53Ter | |
| ENST00000697377.1:c.157C>T | ENSP00000513286.1:p.Gln53Ter | |
| ENST00000697378.1:n.1562C>T | ||
| ENST00000697379.1:c.157C>T | ENSP00000513287.1:p.Gln53Ter | |
| ENST00000697382.1:c.157C>T | ENSP00000513288.1:p.Gln53Ter | |
| ENST00000697383.1:c.48+5606C>T | ENSP00000513289.1:n.48+5606C>T | |
| ENST00000697384.1:n.1196C>T | ||
| ENST00000261584.9:c.1042C>T MANE Select | ENSP00000261584.4:p.Gln348Ter | |
| ENST00000261584.8:c.1042C>T | ENSP00000261584.4:p.Gln348Ter | |
| ENST00000565038.1:c.86+2346C>T | ||
| ENST00000568219.5:c.157C>T | ENSP00000454703.2:p.Gln53Ter | |
| NM_024675.3:c.1042C>T , LRG_308t1:c.1042C>T | NP_078951.2:p.Gln348Ter | |
| XM_011545946.1:c.1048C>T | XP_011544248.1:p.Gln350Ter | |
| XM_011545947.1:c.1048C>T | XP_011544249.1:p.Gln350Ter | |
| XM_011545948.1:c.157C>T | XP_011544250.1:p.Gln53Ter | |
| XR_950851.1:n.1838C>T | ||
| XM_011545946.2:c.1048C>T | XP_011544248.1:p.Gln350Ter | |
| XM_011545947.2:c.1048C>T | XP_011544249.1:p.Gln350Ter | |
| XM_011545948.2:c.157C>T | XP_011544250.1:p.Gln53Ter | |
| XM_017023671.1:c.1048C>T | XP_016879160.1:p.Gln350Ter | |
| XM_017023672.2:c.1042C>T | XP_016879161.1:p.Gln348Ter | |
| XM_017023673.2:c.1042C>T | XP_016879162.1:p.Gln348Ter | |
| NM_024675.4:c.1042C>T MANE Select | NP_078951.2:p.Gln348Ter |