Linked Data
ClinVar Variation Id:
904831
dbSNP Id:
rs772051040
ExAC:
5:174151966 G / A
gnomAD v2:
5-174151966-G-A
gnomAD v4:
5-174724963-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174724963G>A , CM000667.2:g.174724963G>A | GRCh38 |
| NC_000005.9:g.174151966G>A , CM000667.1:g.174151966G>A | GRCh37 |
| NC_000005.8:g.174084572G>A | NCBI36 |
| NG_008124.1:g.5392G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.304G>A MANE Select | ENSP00000239243.5:p.Ala102Thr | |
| ENST00000239243.6:c.304G>A | ENSP00000239243.5:p.Ala102Thr | |
| ENST00000507785.2:c.304G>A | ENSP00000427425.1:p.Ala102Thr | |
| NM_002449.4:c.304G>A | NP_002440.2:p.Ala102Thr | |
| NM_001363626.1:c.304G>A | NP_001350555.1:p.Ala102Thr | |
| NM_002449.5:c.304G>A MANE Select | NP_002440.2:p.Ala102Thr | |
| NM_001363626.2:c.304G>A | NP_001350555.1:p.Ala102Thr |