Linked Data
dbSNP Id:
rs12508866
gnomAD v2:
4-142565693-T-C
gnomAD v3:
4-141644540-T-C
gnomAD v4:
4-141644540-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.141644540T>C , CM000666.2:g.141644540T>C | GRCh38 |
| NC_000004.11:g.142565693T>C , CM000666.1:g.142565693T>C | GRCh37 |
| NC_000004.10:g.142785143T>C | NCBI36 |
| NG_029605.1:g.12945T>C | |
| NG_029605.2:g.12945T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320650.9:c.-222+7792T>C MANE Select | ENSP00000323505.4:n.-222+7792T>C | |
| ENST00000296545.11:c.-222+7316T>C | ENSP00000296545.7:n.-222+7316T>C | |
| ENST00000320650.8:c.-222+7792T>C | ENSP00000323505.4:n.-222+7792T>C | |
| ENST00000514653.5:c.-624+7792T>C | ENSP00000422271.1:n.-624+7792T>C | |
| ENST00000529613.5:c.-314+7316T>C | ENSP00000435462.1:n.-314+7316T>C | |
| NM_000585.4:c.-222+7792T>C | NP_000576.1:n.-222+7792T>C | |
| NM_172175.2:c.-624+7792T>C | NP_751915.1:n.-624+7792T>C | |
| NR_037840.2:n.629+7316T>C | ||
| NM_000585.5:c.-222+7792T>C MANE Select | NP_000576.1:n.-222+7792T>C | |
| NM_172175.3:c.-624+7792T>C | NP_751915.1:n.-624+7792T>C | |
| NR_037840.3:n.642+7316T>C |