Linked Data
dbSNP Id:
rs781201395
ExAC:
12:14659945 G / T
gnomAD v2:
12-14659945-G-T
gnomAD v3:
12-14507011-G-T
gnomAD v4:
12-14507011-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14507011G>T , CM000674.2:g.14507011G>T | GRCh38 |
| NC_000012.11:g.14659945G>T , CM000674.1:g.14659945G>T | GRCh37 |
| NC_000012.10:g.14551212G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1294C>A MANE Select | ENSP00000240617.5:p.Pro432Thr | |
| ENST00000240617.9:c.1294C>A | ENSP00000240617.5:p.Pro432Thr | |
| NM_024829.5:c.1294C>A | NP_079105.4:p.Pro432Thr | |
| NM_024829.6:c.1294C>A MANE Select | NP_079105.4:p.Pro432Thr |