Linked Data
ClinVar Variation Id:
1268246
ClinVar RCV Id:
RCV001685572
dbSNP Id:
rs73583193
gnomAD v2:
11-121032655-A-G
gnomAD v3:
11-121161946-A-G
gnomAD v4:
11-121161946-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121161946A>G , CM000673.2:g.121161946A>G | GRCh38 |
| NC_000011.9:g.121032655A>G , CM000673.1:g.121032655A>G | GRCh37 |
| NC_000011.8:g.120537865A>G | NCBI36 |
| NG_011633.1:g.64281A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.4977-129A>G (TECTA) MANE Select | ENSP00000376543.1:n.4977-129A>G | |
| ENST00000642222.1:c.4977-144A>G (TECTA) | ENSP00000493855.1:n.4977-144A>G | |
| ENST00000645008.1:c.2284-144A>G (TECTA) | ||
| ENST00000646278.1:n.913-144A>G (TECTA) | ||
| ENST00000264037.2:c.4977-129A>G (TECTA) | ENSP00000264037.2:n.4977-129A>G | |
| ENST00000392793.5:c.4977-129A>G (TECTA) | ENSP00000376543.1:n.4977-129A>G | |
| NM_005422.2:c.4977-129A>G (TECTA) | NP_005413.2:n.4977-129A>G | |
| NM_001378761.1:c.5934-144A>G (TBCEL-TECTA) | NP_001365690.1:n.5934-144A>G | |
| NM_005422.4:c.4977-129A>G (TECTA) MANE Select | NP_005413.2:n.4977-129A>G |