Linked Data
ClinVar Variation Id:
1155781
ClinVar RCV Id:
RCV001498218
dbSNP Id:
rs758972845
ExAC:
7:107350629 T / A
gnomAD v2:
7-107350629-T-A
gnomAD v4:
7-107710184-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107710184T>A , CM000669.2:g.107710184T>A | GRCh38 |
| NC_000007.13:g.107350629T>A , CM000669.1:g.107350629T>A | GRCh37 |
| NC_000007.12:g.107137865T>A | NCBI36 |
| NG_008489.1:g.54550T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2220T>A MANE Select | ENSP00000494017.1:p.Gly740= | |
| ENST00000644846.1:c.876T>A | ||
| ENST00000265715.7:c.2220T>A | ENSP00000265715.3:p.Gly740= | |
| ENST00000492030.2:n.406T>A | ||
| NM_000441.1:c.2220T>A | NP_000432.1:p.Gly740= | |
| XM_005250425.1:c.2220T>A | XP_005250482.1:p.Gly740= | |
| XM_005250425.2:c.2220T>A | XP_005250482.1:p.Gly740= | |
| XM_017012318.1:c.2142T>A | XP_016867807.1:p.Gly714= | |
| NM_000441.2:c.2220T>A MANE Select | NP_000432.1:p.Gly740= |