Linked Data
ClinVar Variation Id:
9353
dbSNP Id:
rs61749665
ExAC:
17:7906519 G / T
gnomAD v2:
17-7906519-G-T
gnomAD v3:
17-8003201-G-T
gnomAD v4:
17-8003201-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003201G>T , CM000679.2:g.8003201G>T | GRCh38 |
| NC_000017.10:g.7906519G>T , CM000679.1:g.7906519G>T | GRCh37 |
| NC_000017.9:g.7847244G>T | NCBI36 |
| NG_009092.1:g.5532G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254854.5:c.154G>T MANE Select | ENSP00000254854.4:p.Ala52Ser | |
| ENST00000254854.4:c.154G>T | ENSP00000254854.4:p.Ala52Ser | |
| NM_000180.3:c.154G>T | NP_000171.1:p.Ala52Ser | |
| XM_011523816.1:c.154G>T | XP_011522118.1:p.Ala52Ser | |
| NM_000180.4:c.154G>T MANE Select | NP_000171.1:p.Ala52Ser |