Linked Data
ClinVar Variation Id:
288521
dbSNP Id:
rs111759871
ExAC:
11:121000423 C / T
gnomAD v2:
11-121000423-C-T
gnomAD v3:
11-121129714-C-T
gnomAD v4:
11-121129714-C-T
COSMIC:
COSM267560
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121129714C>T , CM000673.2:g.121129714C>T | GRCh38 |
| NC_000011.9:g.121000423C>T , CM000673.1:g.121000423C>T | GRCh37 |
| NC_000011.8:g.120505633C>T | NCBI36 |
| NG_011633.1:g.32049C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.2444C>T (TECTA) MANE Select | ENSP00000376543.1:p.Thr815Met | |
| ENST00000642222.1:c.2444C>T (TECTA) | ENSP00000493855.1:p.Thr815Met | |
| ENST00000264037.2:c.2444C>T (TECTA) | ENSP00000264037.2:p.Thr815Met | |
| ENST00000392793.5:c.2444C>T (TECTA) | ENSP00000376543.1:p.Thr815Met | |
| NM_005422.2:c.2444C>T (TECTA) | NP_005413.2:p.Thr815Met | |
| NM_001378761.1:c.3401C>T (TBCEL-TECTA) | NP_001365690.1:p.Thr1134Met | |
| NM_005422.4:c.2444C>T (TECTA) MANE Select | NP_005413.2:p.Thr815Met |