Linked Data
dbSNP Id:
rs150267761
ExAC:
12:14660043 G / A
gnomAD v2:
12-14660043-G-A
gnomAD v3:
12-14507109-G-A
gnomAD v4:
12-14507109-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14507109G>A , CM000674.2:g.14507109G>A | GRCh38 |
| NC_000012.11:g.14660043G>A , CM000674.1:g.14660043G>A | GRCh37 |
| NC_000012.10:g.14551310G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1196C>T MANE Select | ENSP00000240617.5:p.Pro399Leu | |
| ENST00000240617.9:c.1196C>T | ENSP00000240617.5:p.Pro399Leu | |
| NM_024829.5:c.1196C>T | NP_079105.4:p.Pro399Leu | |
| NM_024829.6:c.1196C>T MANE Select | NP_079105.4:p.Pro399Leu |