Linked Data
dbSNP Id:
rs751887703
ExAC:
11:121008311 G / C
gnomAD v2:
11-121008311-G-C
gnomAD v3:
11-121137602-G-C
gnomAD v4:
11-121137602-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121137602G>C , CM000673.2:g.121137602G>C | GRCh38 |
| NC_000011.9:g.121008311G>C , CM000673.1:g.121008311G>C | GRCh37 |
| NC_000011.8:g.120513521G>C | NCBI36 |
| NG_011633.1:g.39937G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3123G>C (TECTA) MANE Select | ENSP00000376543.1:p.Glu1041Asp | |
| ENST00000642222.1:c.3123G>C (TECTA) | ENSP00000493855.1:p.Glu1041Asp | |
| ENST00000645008.1:c.430G>C (TECTA) | ||
| ENST00000264037.2:c.3123G>C (TECTA) | ENSP00000264037.2:p.Glu1041Asp | |
| ENST00000392793.5:c.3123G>C (TECTA) | ENSP00000376543.1:p.Glu1041Asp | |
| NM_005422.2:c.3123G>C (TECTA) | NP_005413.2:p.Glu1041Asp | |
| NM_001378761.1:c.4080G>C (TBCEL-TECTA) | NP_001365690.1:p.Glu1360Asp | |
| NM_005422.4:c.3123G>C (TECTA) MANE Select | NP_005413.2:p.Glu1041Asp |