Linked Data
ClinVar Variation Id:
1206421
dbSNP Id:
rs200852252
ExAC:
11:121016424 A / G
gnomAD v2:
11-121016424-A-G
gnomAD v3:
11-121145715-A-G
gnomAD v4:
11-121145715-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121145715A>G , CM000673.2:g.121145715A>G | GRCh38 |
| NC_000011.9:g.121016424A>G , CM000673.1:g.121016424A>G | GRCh37 |
| NC_000011.8:g.120521634A>G | NCBI36 |
| NG_011633.1:g.48050A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3704A>G (TECTA) MANE Select | ENSP00000376543.1:p.Asn1235Ser | |
| ENST00000642222.1:c.3704A>G (TECTA) | ENSP00000493855.1:p.Asn1235Ser | |
| ENST00000645008.1:c.1011A>G (TECTA) | ||
| ENST00000264037.2:c.3704A>G (TECTA) | ENSP00000264037.2:p.Asn1235Ser | |
| ENST00000392793.5:c.3704A>G (TECTA) | ENSP00000376543.1:p.Asn1235Ser | |
| ENST00000478058.1:n.269A>G (TECTA) | ||
| NM_005422.2:c.3704A>G (TECTA) | NP_005413.2:p.Asn1235Ser | |
| NM_001378761.1:c.4661A>G (TBCEL-TECTA) | NP_001365690.1:p.Asn1554Ser | |
| NM_005422.4:c.3704A>G (TECTA) MANE Select | NP_005413.2:p.Asn1235Ser |