Linked Data
ClinVar Variation Id:
1147264
ClinVar RCV Id:
RCV001486760
dbSNP Id:
rs551888561
ExAC:
7:107336395 G / A
gnomAD v2:
7-107336395-G-A
gnomAD v3:
7-107695950-G-A
gnomAD v4:
7-107695950-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107695950G>A , CM000669.2:g.107695950G>A | GRCh38 |
| NC_000007.13:g.107336395G>A , CM000669.1:g.107336395G>A | GRCh37 |
| NC_000007.12:g.107123631G>A | NCBI36 |
| NG_008489.1:g.40316G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1455G>A MANE Select | ENSP00000494017.1:p.Thr485= | |
| ENST00000644846.1:c.166G>A | ||
| ENST00000265715.7:c.1455G>A | ENSP00000265715.3:p.Thr485= | |
| ENST00000460748.1:n.558G>A | ||
| ENST00000477350.5:n.302G>A | ||
| ENST00000480841.5:n.304G>A | ||
| ENST00000497446.5:n.470G>A | ||
| NM_000441.1:c.1455G>A | NP_000432.1:p.Thr485= | |
| XM_005250425.1:c.1455G>A | XP_005250482.1:p.Thr485= | |
| XM_005250425.2:c.1455G>A | XP_005250482.1:p.Thr485= | |
| XM_017012318.1:c.1377G>A | XP_016867807.1:p.Thr459= | |
| NM_000441.2:c.1455G>A MANE Select | NP_000432.1:p.Thr485= |