Linked Data
dbSNP Id:
rs770272324
ExAC:
10:115804027 G / A
gnomAD v2:
10-115804027-G-A
gnomAD v4:
10-114044268-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044268G>A , CM000672.2:g.114044268G>A | GRCh38 |
| NC_000010.10:g.115804027G>A , CM000672.1:g.115804027G>A | GRCh37 |
| NC_000010.9:g.115794017G>A | NCBI36 |
| NG_012187.1:g.5222G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.136G>A MANE Select | ENSP00000358301.2:p.Ala46Thr | |
| ENST00000369295.3:c.136G>A | ENSP00000358301.2:p.Ala46Thr | |
| NM_000684.2:c.136G>A | NP_000675.1:p.Ala46Thr | |
| NM_000684.3:c.136G>A MANE Select | NP_000675.1:p.Ala46Thr |