Linked Data
ClinVar Variation Id:
1428840
ClinVar RCV Id:
RCV001936503
dbSNP Id:
rs2135059469
gnomAD v4:
11-121113174-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121113174G>A , CM000673.2:g.121113174G>A | GRCh38 |
| NC_000011.9:g.120983883G>A , CM000673.1:g.120983883G>A | GRCh37 |
| NC_000011.8:g.120489093G>A | NCBI36 |
| NG_011633.1:g.15509G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.589G>A (TECTA) MANE Select | ENSP00000376543.1:p.Asp197Asn | |
| ENST00000642222.1:c.589G>A (TECTA) | ENSP00000493855.1:p.Asp197Asn | |
| ENST00000264037.2:c.589G>A (TECTA) | ENSP00000264037.2:p.Asp197Asn | |
| ENST00000392793.5:c.589G>A (TECTA) | ENSP00000376543.1:p.Asp197Asn | |
| NM_005422.2:c.589G>A (TECTA) | NP_005413.2:p.Asp197Asn | |
| NM_001378761.1:c.1546G>A (TBCEL-TECTA) | NP_001365690.1:p.Asp516Asn | |
| NM_005422.4:c.589G>A (TECTA) MANE Select | NP_005413.2:p.Asp197Asn |