Linked Data
dbSNP Id:
rs202104412
ExAC:
11:121039475 G / A
gnomAD v2:
11-121039475-G-A
gnomAD v3:
11-121168766-G-A
gnomAD v4:
11-121168766-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121168766G>A , CM000673.2:g.121168766G>A | GRCh38 |
| NC_000011.9:g.121039475G>A , CM000673.1:g.121039475G>A | GRCh37 |
| NC_000011.8:g.120544685G>A | NCBI36 |
| NG_011633.1:g.71101G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5840G>A (TECTA) MANE Select | ENSP00000376543.1:p.Arg1947His | |
| ENST00000642222.1:c.5825G>A (TECTA) | ENSP00000493855.1:p.Arg1942His | |
| ENST00000645008.1:c.3132G>A (TECTA) | ||
| ENST00000646278.1:n.2220G>A (TECTA) | ||
| ENST00000264037.2:c.5840G>A (TECTA) | ENSP00000264037.2:p.Arg1947His | |
| ENST00000392793.5:c.5840G>A (TECTA) | ENSP00000376543.1:p.Arg1947His | |
| NM_005422.2:c.5840G>A (TECTA) | NP_005413.2:p.Arg1947His | |
| NM_001378761.1:c.6782G>A (TBCEL-TECTA) | NP_001365690.1:p.Arg2261His | |
| NM_005422.4:c.5840G>A (TECTA) MANE Select | NP_005413.2:p.Arg1947His |