Linked Data
dbSNP Id:
rs776028244
gnomAD v2:
8-37823592-G-A
gnomAD v3:
8-37966074-G-A
gnomAD v4:
8-37966074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966074G>A , CM000670.2:g.37966074G>A | GRCh38 |
| NC_000008.10:g.37823592G>A , CM000670.1:g.37823592G>A | GRCh37 |
| NC_000008.9:g.37942749G>A | NCBI36 |
| NG_011936.1:g.5593C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345060.5:c.396C>T MANE Select | ENSP00000343782.3:p.Ala132= | |
| ENST00000520341.2:n.524C>T | ||
| ENST00000345060.4:c.396C>T | ENSP00000343782.3:p.Ala132= | |
| ENST00000614635.1:c.396C>T | ENSP00000480325.1:p.Ala132= | |
| NM_000025.2:c.396C>T | NP_000016.1:p.Ala132= | |
| NM_000025.3:c.396C>T MANE Select | NP_000016.1:p.Ala132= |