Linked Data
dbSNP Id:
rs751917708
ExAC:
1:20944962 C / T
gnomAD v2:
1-20944962-C-T
gnomAD v4:
1-20618469-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20618469C>T , CM000663.2:g.20618469C>T | GRCh38 |
| NC_000001.10:g.20944962C>T , CM000663.1:g.20944962C>T | GRCh37 |
| NC_000001.9:g.20817549C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375071.4:c.342C>T MANE Select | ENSP00000364212.3:p.Pro114= | |
| ENST00000375071.3:c.342C>T | ENSP00000364212.3:p.Pro114= | |
| ENST00000461985.1:n.328C>T | ||
| NM_001785.2:c.342C>T | NP_001776.1:p.Pro114= | |
| NM_001785.3:c.342C>T MANE Select | NP_001776.1:p.Pro114= |