Linked Data
dbSNP Id:
rs752633662
ExAC:
10:115804047 G / T
gnomAD v2:
10-115804047-G-T
gnomAD v3:
10-114044288-G-T
gnomAD v4:
10-114044288-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044288G>T , CM000672.2:g.114044288G>T | GRCh38 |
| NC_000010.10:g.115804047G>T , CM000672.1:g.115804047G>T | GRCh37 |
| NC_000010.9:g.115794037G>T | NCBI36 |
| NG_012187.1:g.5242G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369295.4:c.156G>T MANE Select | ENSP00000358301.2:p.Pro52= | |
| ENST00000369295.3:c.156G>T | ENSP00000358301.2:p.Pro52= | |
| NM_000684.2:c.156G>T | NP_000675.1:p.Pro52= | |
| NM_000684.3:c.156G>T MANE Select | NP_000675.1:p.Pro52= |