Linked Data
ClinVar Variation Id:
708482
dbSNP Id:
rs140907811
ExAC:
7:80427465 C / A
gnomAD v2:
7-80427465-C-A
gnomAD v3:
7-80798149-C-A
gnomAD v4:
7-80798149-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80798149C>A , CM000669.2:g.80798149C>A | GRCh38 |
| NC_000007.13:g.80427465C>A , CM000669.1:g.80427465C>A | GRCh37 |
| NC_000007.12:g.80265401C>A | NCBI36 |
| NG_054744.1:g.129231G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265361.8:c.1074G>T MANE Select | ENSP00000265361.3:p.Gly358= | |
| ENST00000265361.7:c.1074G>T | ENSP00000265361.3:p.Gly358= | |
| ENST00000419255.6:c.1074G>T | ENSP00000411193.2:p.Gly358= | |
| ENST00000458729.5:c.*607G>T | ENSP00000393825.1:n.*607G>T | |
| ENST00000475955.1:n.90G>T | ||
| NM_006379.3:c.1074G>T | NP_006370.1:p.Gly358= | |
| XM_005250113.1:c.900G>T | XP_005250170.1:p.Gly300= | |
| NM_001350120.1:c.1128G>T | NP_001337049.1:p.Gly376= | |
| NM_001350121.1:c.900G>T | NP_001337050.1:p.Gly300= | |
| NM_006379.4:c.1074G>T | NP_006370.1:p.Gly358= | |
| NM_006379.5:c.1074G>T MANE Select | NP_006370.1:p.Gly358= | |
| NM_001350120.2:c.1128G>T | NP_001337049.1:p.Gly376= | |
| NM_001350121.2:c.900G>T | NP_001337050.1:p.Gly300= |