Linked Data
ClinVar Variation Id:
392630
ClinVar RCV Id:
RCV000432649
dbSNP Id:
rs199712943
ExAC:
7:107615556 A / C
gnomAD v2:
7-107615556-A-C
gnomAD v3:
7-107975111-A-C
gnomAD v4:
7-107975111-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107975111A>C , CM000669.2:g.107975111A>C | GRCh38 |
| NC_000007.13:g.107615556A>C , CM000669.1:g.107615556A>C | GRCh37 |
| NC_000007.12:g.107402792A>C | NCBI36 |
| NG_023255.1:g.33249T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.1370-13T>G MANE Select | ENSP00000222399.6:n.1370-13T>G | |
| ENST00000393561.6:c.959-13T>G | ENSP00000377191.2:n.959-13T>G | |
| ENST00000439976.6:c.1628-13T>G | ENSP00000412686.2:n.1628-13T>G | |
| ENST00000676574.1:c.1370-13T>G | ENSP00000503081.1:n.1370-13T>G | |
| ENST00000676777.1:c.1370-13T>G | ENSP00000504756.1:n.1370-13T>G | |
| ENST00000676920.1:c.959-13T>G | ENSP00000503814.1:n.959-13T>G | |
| ENST00000677101.1:c.*1006-13T>G | ENSP00000503156.1:n.*1006-13T>G | |
| ENST00000677144.1:c.1370-13T>G | ENSP00000503049.1:n.1370-13T>G | |
| ENST00000677485.1:n.2594-13T>G | ||
| ENST00000677588.1:c.1370-13T>G | ENSP00000502938.1:n.1370-13T>G | |
| ENST00000677652.1:n.1559-13T>G | ||
| ENST00000677734.1:n.1559-13T>G | ||
| ENST00000677793.1:c.1370-13T>G | ENSP00000504020.1:n.1370-13T>G | |
| ENST00000677801.1:c.959-13T>G | ENSP00000503438.1:n.959-13T>G | |
| ENST00000677994.1:n.1536-13T>G | ||
| ENST00000678232.1:n.1559-13T>G | ||
| ENST00000678266.1:n.1512-13T>G | ||
| ENST00000678346.1:c.*1006-13T>G | ENSP00000504349.1:n.*1006-13T>G | |
| ENST00000678698.1:c.959-13T>G | ENSP00000503198.1:n.959-13T>G | |
| ENST00000678704.1:c.1374-13T>G | ENSP00000504589.1:n.1374-13T>G | |
| ENST00000678892.1:c.1370-13T>G | ENSP00000504841.1:n.1370-13T>G | |
| ENST00000679173.1:n.1559-13T>G | ||
| ENST00000679200.1:c.959-13T>G | ENSP00000503498.1:n.959-13T>G | |
| ENST00000679244.1:c.1370-13T>G | ENSP00000504656.1:n.1370-13T>G | |
| ENST00000222399.10:c.1370-13T>G | ENSP00000222399.6:n.1370-13T>G | |
| ENST00000393560.5:c.1370-13T>G | ENSP00000377190.1:n.1370-13T>G | |
| ENST00000393561.5:c.1442-13T>G | ENSP00000377191.1:n.1442-13T>G | |
| NM_002291.2:c.1370-13T>G | NP_002282.2:n.1370-13T>G | |
| XM_011516203.1:c.1370-13T>G | XP_011514505.1:n.1370-13T>G | |
| XM_017012201.1:c.1442-13T>G | XP_016867690.1:n.1442-13T>G | |
| XM_017012202.1:c.1442-13T>G | XP_016867691.1:n.1442-13T>G | |
| XR_001744756.1:n.2173-13T>G | ||
| NM_002291.3:c.1370-13T>G MANE Select | NP_002282.2:n.1370-13T>G |