Linked Data
ClinVar Variation Id:
6955
ClinVar RCV Id:
RCV000007370
dbSNP Id:
rs121908969
gnomAD v2:
17-18057504-G-T
gnomAD v4:
17-18154190-G-T
PubMed:
PMID:11735029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18154190G>T , CM000679.2:g.18154190G>T | GRCh38 |
| NC_000017.10:g.18057504G>T , CM000679.1:g.18057504G>T | GRCh37 |
| NC_000017.9:g.17998229G>T | NCBI36 |
| NG_011634.1:g.50485G>T | |
| NG_011634.2:g.50485G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644795.1:c.-61G>T | ENSP00000495720.1:n.-61G>T | |
| ENST00000646782.1:n.303G>T | ||
| ENST00000647165.2:c.8148G>T MANE Select | ENSP00000495481.1:p.Gln2716His | |
| ENST00000651214.1:n.294G>T | ||
| ENST00000205890.9:c.8148G>T | ENSP00000205890.5:p.Gln2716His | |
| ENST00000418233.7:c.-61G>T | ENSP00000408800.3:n.-61G>T | |
| ENST00000445289.6:n.137G>T | ||
| ENST00000536811.5:n.137G>T | ||
| ENST00000585180.1:c.-61G>T | ENSP00000464462.1:n.-61G>T | |
| ENST00000615845.4:c.8148G>T | ENSP00000481642.1:p.Gln2716His | |
| NM_016239.3:c.8148G>T | NP_057323.3:p.Gln2716His | |
| XM_011523921.1:c.8142G>T | XP_011522223.1:p.Gln2714His | |
| XM_017024714.2:c.8088G>T | XP_016880203.1:p.Gln2696His | |
| XM_017024715.2:c.8151G>T | XP_016880204.1:p.Gln2717His | |
| XR_001752809.1:n.247C>A | ||
| XR_001752810.1:n.247C>A | ||
| NM_016239.4:c.8148G>T MANE Select | NP_057323.3:p.Gln2716His |