Linked Data
ClinVar Variation Id:
265519
dbSNP Id:
rs141915593
ExAC:
11:66332479 T / G
gnomAD v2:
11-66332479-T-G
gnomAD v3:
11-66565008-T-G
gnomAD v4:
11-66565008-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66565008T>G , CM000673.2:g.66565008T>G | GRCh38 |
| NC_000011.9:g.66332479T>G , CM000673.1:g.66332479T>G | GRCh37 |
| NC_000011.8:g.66089055T>G | NCBI36 |
| NG_013304.2:g.23089T>G | |
| NG_032973.1:g.8569A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310325.10:c.1046-2A>C MANE Select | ENSP00000310832.5:n.1046-2A>C | |
| ENST00000524994.6:c.1043-2A>C | ENSP00000433082.2:n.1043-2A>C | |
| ENST00000525733.6:c.*240-2A>C | ENSP00000434936.2:n.*240-2A>C | |
| ENST00000526010.2:c.770-2A>C | ENSP00000435822.2:n.770-2A>C | |
| ENST00000527141.6:n.945-2A>C | ||
| ENST00000530565.6:n.1410A>C | ||
| ENST00000533168.2:n.1134-2A>C | ||
| ENST00000676860.1:n.997-2A>C | ||
| ENST00000676924.1:c.*66-2A>C | ENSP00000503579.1:n.*66-2A>C | |
| ENST00000677005.1:c.1046-2A>C | ENSP00000503238.1:n.1046-2A>C | |
| ENST00000677020.1:n.584A>C | ||
| ENST00000677186.1:n.1166-2A>C | ||
| ENST00000677298.1:n.1452-2A>C | ||
| ENST00000677365.1:n.1184-2A>C | ||
| ENST00000677526.1:c.*10-2A>C | ENSP00000504693.1:n.*10-2A>C | |
| ENST00000677587.1:c.1088-2A>C | ENSP00000503791.1:n.1088-2A>C | |
| ENST00000677678.1:n.453A>C | ||
| ENST00000677779.1:n.891-2A>C | ||
| ENST00000677896.1:c.1037-2A>C | ENSP00000504605.1:n.1037-2A>C | |
| ENST00000677920.1:c.*298-2A>C | ENSP00000503614.1:n.*298-2A>C | |
| ENST00000678154.1:c.*708-2A>C | ENSP00000502935.1:n.*708-2A>C | |
| ENST00000678294.1:n.1162-2A>C | ||
| ENST00000678305.1:c.974-2A>C | ENSP00000504383.1:n.974-2A>C | |
| ENST00000678383.1:n.1796A>C | ||
| ENST00000678413.1:c.*240-2A>C | ENSP00000503232.1:n.*240-2A>C | |
| ENST00000678471.1:c.1046-5A>C | ENSP00000502949.1:n.1046-5A>C | |
| ENST00000678614.1:n.967A>C | ||
| ENST00000678710.1:c.1046-2A>C | ENSP00000504254.1:n.1046-2A>C | |
| ENST00000678872.1:c.1046-2A>C | ENSP00000503425.1:n.1046-2A>C | |
| ENST00000678946.1:n.978-2A>C | ||
| ENST00000678953.1:c.*782-2A>C | ENSP00000504169.1:n.*782-2A>C | |
| ENST00000679011.1:c.*10-2A>C | ENSP00000503980.1:n.*10-2A>C | |
| ENST00000679024.1:c.1046-2A>C | ENSP00000503506.1:n.1046-2A>C | |
| ENST00000679160.1:c.971-2A>C | ENSP00000503972.1:n.971-2A>C | |
| ENST00000679225.1:n.986-2A>C | ||
| ENST00000679314.1:c.*138A>C | ENSP00000503465.1:n.*138A>C | |
| ENST00000679347.1:c.1046-2A>C | ENSP00000503676.1:n.1046-2A>C | |
| ENST00000310325.9:c.1046-2A>C | ENSP00000310832.5:n.1046-2A>C | |
| ENST00000524994.5:c.588-2A>C | ||
| ENST00000525733.5:c.313-2A>C | ||
| ENST00000527141.5:n.567-2A>C | ||
| ENST00000529199.1:n.385-17A>C | ||
| ENST00000530565.5:n.371-2A>C | ||
| NM_003793.3:c.1046-2A>C | NP_003784.2:n.1046-2A>C | |
| XM_011545328.1:c.866-2A>C | XP_011543630.1:n.866-2A>C | |
| XM_011545328.2:c.866-2A>C | XP_011543630.1:n.866-2A>C | |
| NM_003793.4:c.1046-2A>C MANE Select | NP_003784.2:n.1046-2A>C |