Linked Data
ClinVar Variation Id:
303040
dbSNP Id:
rs879251219
gnomAD v3:
11-121168755-A-G
gnomAD v4:
11-121168755-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121168755A>G , CM000673.2:g.121168755A>G | GRCh38 |
| NC_000011.9:g.121039464A>G , CM000673.1:g.121039464A>G | GRCh37 |
| NC_000011.8:g.120544674A>G | NCBI36 |
| NG_011633.1:g.71090A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392793.6:c.5829A>G (TECTA) MANE Select | ENSP00000376543.1:p.Lys1943= | |
| ENST00000642222.1:c.5814A>G (TECTA) | ENSP00000493855.1:p.Lys1938= | |
| ENST00000645008.1:c.3121A>G (TECTA) | ||
| ENST00000646278.1:n.2209A>G (TECTA) | ||
| ENST00000264037.2:c.5829A>G (TECTA) | ENSP00000264037.2:p.Lys1943= | |
| ENST00000392793.5:c.5829A>G (TECTA) | ENSP00000376543.1:p.Lys1943= | |
| NM_005422.2:c.5829A>G (TECTA) | NP_005413.2:p.Lys1943= | |
| NM_001378761.1:c.6771A>G (TBCEL-TECTA) | NP_001365690.1:p.Lys2257= | |
| NM_005422.4:c.5829A>G (TECTA) MANE Select | NP_005413.2:p.Lys1943= |