Linked Data
dbSNP Id:
rs761618842
ExAC:
12:7945643 T / TCGC
gnomAD v2:
12-7945643-T-TCGC
gnomAD v4:
12-7793047-T-TCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7793047_7793048insCGC , CM000674.2:g.7793047_7793048insCGC | GRCh38 |
| NC_000012.11:g.7945643_7945644insCGC , CM000674.1:g.7945643_7945644insCGC | GRCh37 |
| NC_000012.10:g.7836910_7836911insCGC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229307.9:c.249_250insCGC MANE Select | ENSP00000229307.4:p.Ser83_Val84insArg | |
| ENST00000229307.8:c.249_250insCGC | ENSP00000229307.4:p.Ser83_Val84insArg | |
| ENST00000526286.1:c.249_250insCGC | ENSP00000435288.1:p.Ser83_Val84insArg | |
| ENST00000526434.2:n.393_394insCGC | ||
| ENST00000541267.5:c.177_178insCGC | ENSP00000444434.1:p.Ser59_Val60insArg | |
| NM_001297698.1:c.249_250insCGC | NP_001284627.1:p.Ser83_Val84insArg | |
| NM_024865.3:c.249_250insCGC | NP_079141.2:p.Ser83_Val84insArg | |
| XM_011520850.1:c.249_250insCGC | XP_011519152.1:p.Ser83_Val84insArg | |
| XM_011520851.1:c.177_178insCGC | XP_011519153.1:p.Ser59_Val60insArg | |
| XM_011520852.1:c.-124_-123insCGC | XP_011519154.1:n.-124_-123insCGC | |
| NM_024865.4:c.249_250insCGC MANE Select | NP_079141.2:p.Ser83_Val84insArg | |
| NM_001297698.2:c.249_250insCGC | NP_001284627.1:p.Ser83_Val84insArg |