Linked Data
ClinVar Variation Id:
1306920
ClinVar RCV Id:
RCV001772378
dbSNP Id:
rs760356992
ExAC:
11:121039467 T / A
gnomAD v2:
11-121039467-T-A
gnomAD v3:
11-121168758-T-A
gnomAD v4:
11-121168758-T-A
COSMIC:
COSM1973066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121168758T>A , CM000673.2:g.121168758T>A | GRCh38 |
| NC_000011.9:g.121039467T>A , CM000673.1:g.121039467T>A | GRCh37 |
| NC_000011.8:g.120544677T>A | NCBI36 |
| NG_011633.1:g.71093T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5832T>A (TECTA) MANE Select | ENSP00000376543.1:p.His1944Gln | |
| ENST00000642222.1:c.5817T>A (TECTA) | ENSP00000493855.1:p.His1939Gln | |
| ENST00000645008.1:c.3124T>A (TECTA) | ||
| ENST00000646278.1:n.2212T>A (TECTA) | ||
| ENST00000264037.2:c.5832T>A (TECTA) | ENSP00000264037.2:p.His1944Gln | |
| ENST00000392793.5:c.5832T>A (TECTA) | ENSP00000376543.1:p.His1944Gln | |
| NM_005422.2:c.5832T>A (TECTA) | NP_005413.2:p.His1944Gln | |
| NM_001378761.1:c.6774T>A (TBCEL-TECTA) | NP_001365690.1:p.His2258Gln | |
| NM_005422.4:c.5832T>A (TECTA) MANE Select | NP_005413.2:p.His1944Gln |