Linked Data
ClinVar Variation Id:
1239894
ClinVar RCV Id:
RCV001637858
dbSNP Id:
rs2072209
gnomAD v2:
7-107592198-A-G
gnomAD v3:
7-107951753-A-G
gnomAD v4:
7-107951753-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107951753A>G , CM000669.2:g.107951753A>G | GRCh38 |
| NC_000007.13:g.107592198A>G , CM000669.1:g.107592198A>G | GRCh37 |
| NC_000007.12:g.107379434A>G | NCBI36 |
| NG_023255.1:g.56607T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222399.11:c.3294+256T>C MANE Select | ENSP00000222399.6:n.3294+256T>C | |
| ENST00000393561.6:c.2883+256T>C | ENSP00000377191.2:n.2883+256T>C | |
| ENST00000676574.1:c.3294+256T>C | ENSP00000503081.1:n.3294+256T>C | |
| ENST00000676777.1:c.3294+256T>C | ENSP00000504756.1:n.3294+256T>C | |
| ENST00000676920.1:c.2883+256T>C | ENSP00000503814.1:n.2883+256T>C | |
| ENST00000677101.1:c.*2930+256T>C | ENSP00000503156.1:n.*2930+256T>C | |
| ENST00000677144.1:c.*113+256T>C | ENSP00000503049.1:n.*113+256T>C | |
| ENST00000677485.1:n.4518+256T>C | ||
| ENST00000677588.1:c.3294+256T>C | ENSP00000502938.1:n.3294+256T>C | |
| ENST00000677652.1:n.3483+256T>C | ||
| ENST00000677793.1:c.3079+1777T>C | ENSP00000504020.1:n.3079+1777T>C | |
| ENST00000677801.1:c.2883+256T>C | ENSP00000503438.1:n.2883+256T>C | |
| ENST00000677994.1:n.3460+256T>C | ||
| ENST00000678232.1:n.3483+256T>C | ||
| ENST00000678266.1:n.3436+256T>C | ||
| ENST00000678346.1:c.*2930+256T>C | ENSP00000504349.1:n.*2930+256T>C | |
| ENST00000678698.1:c.2883+256T>C | ENSP00000503198.1:n.2883+256T>C | |
| ENST00000678704.1:c.*1876+256T>C | ENSP00000504589.1:n.*1876+256T>C | |
| ENST00000678892.1:c.3294+256T>C | ENSP00000504841.1:n.3294+256T>C | |
| ENST00000679173.1:n.3483+256T>C | ||
| ENST00000679200.1:c.2883+256T>C | ENSP00000503498.1:n.2883+256T>C | |
| ENST00000679244.1:c.3294+256T>C | ENSP00000504656.1:n.3294+256T>C | |
| ENST00000222399.10:c.3294+256T>C | ENSP00000222399.6:n.3294+256T>C | |
| ENST00000393561.5:c.3366+256T>C | ENSP00000377191.1:n.3366+256T>C | |
| ENST00000476039.1:n.335+256T>C | ||
| ENST00000479448.1:n.82+256T>C | ||
| NM_002291.2:c.3294+256T>C | NP_002282.2:n.3294+256T>C | |
| XM_011516203.1:c.3294+256T>C | XP_011514505.1:n.3294+256T>C | |
| XM_017012201.1:c.3366+256T>C | XP_016867690.1:n.3366+256T>C | |
| XM_017012202.1:c.3366+256T>C | XP_016867691.1:n.3366+256T>C | |
| XR_001744756.1:n.4097+256T>C | ||
| NM_002291.3:c.3294+256T>C MANE Select | NP_002282.2:n.3294+256T>C |