Linked Data
dbSNP Id:
rs749806365
ExAC:
11:8111673 G / T
gnomAD v2:
11-8111673-G-T
gnomAD v4:
11-8090126-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090126G>T , CM000673.2:g.8090126G>T | GRCh38 |
| NC_000011.9:g.8111673G>T , CM000673.1:g.8111673G>T | GRCh37 |
| NC_000011.8:g.8068249G>T | NCBI36 |
| NG_029912.1:g.56494G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.148G>T MANE Select | ENSP00000299506.3:p.Ala50Ser | |
| ENST00000299506.2:c.148G>T | ENSP00000299506.2:p.Ala50Ser | |
| ENST00000305253.8:c.313G>T | ENSP00000305426.4:p.Ala105Ser | |
| ENST00000534099.5:c.166G>T | ENSP00000434400.1:p.Ala56Ser | |
| NM_003320.4:c.313G>T | NP_003311.2:p.Ala105Ser | |
| NM_177972.2:c.148G>T | NP_813977.1:p.Ala50Ser | |
| XM_005253109.2:c.274G>T | XP_005253166.1:p.Ala92Ser | |
| XM_011520344.1:c.184G>T | XP_011518646.1:p.Ala62Ser | |
| XM_005253109.3:c.274G>T | XP_005253166.1:p.Ala92Ser | |
| XM_011520344.2:c.184G>T | XP_011518646.1:p.Ala62Ser | |
| NM_177972.3:c.148G>T MANE Select | NP_813977.1:p.Ala50Ser | |
| NM_003320.5:c.313G>T | NP_003311.2:p.Ala105Ser |