Linked Data
ClinVar Variation Id:
1871
ClinVar RCV Id:
RCV000001948
dbSNP Id:
rs121918261
gnomAD v4:
7-39339703-G-T
PubMed:
PMID:15459955
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.39339703G>T , CM000669.2:g.39339703G>T | GRCh38 |
| NC_000007.13:g.39379302G>T , CM000669.1:g.39379302G>T | GRCh37 |
| NC_000007.12:g.39345827G>T | NCBI36 |
| NG_016022.1:g.366694G>T | |
| NG_016022.2:g.366826G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403058.6:c.573G>T | ENSP00000384004.1:p.Gln191His | |
| ENST00000518318.7:c.660G>T MANE Select | ENSP00000430514.3:p.Gln220His | |
| ENST00000673818.5:n.650G>T | ||
| ENST00000673891.1:c.*660G>T | ENSP00000501205.1:n.*660G>T | |
| ENST00000674059.1:c.*660G>T | ENSP00000500997.1:n.*660G>T | |
| ENST00000403058.5:c.573G>T | ENSP00000384004.1:p.Gln191His | |
| ENST00000517348.1:n.1034G>T | ||
| ENST00000518318.6:c.573G>T | ENSP00000430514.2:p.Gln191His | |
| ENST00000520104.5:c.549G>T | ENSP00000453020.1:p.Gln183His | |
| ENST00000524147.5:c.549G>T | ENSP00000452911.1:p.Gln183His | |
| ENST00000559001.5:c.549G>T | ENSP00000452633.1:p.Gln183His | |
| NM_001166018.1:c.573G>T | NP_001159490.1:p.Gln191His | |
| NM_007252.3:c.573G>T | NP_009183.3:p.Gln191His | |
| XM_011515113.1:c.660G>T | XP_011513415.1:p.Gln220His | |
| XM_011515113.2:c.660G>T | XP_011513415.1:p.Gln220His | |
| NM_001166018.2:c.573G>T | NP_001159490.1:p.Gln191His | |
| NM_001370959.1:c.660G>T MANE Select | NP_001357888.1:p.Gln220His | |
| NM_007252.4:c.573G>T | NP_009183.3:p.Gln191His |