Linked Data
ClinVar Variation Id:
496463
ClinVar RCV Id:
RCV000590615
dbSNP Id:
rs1341292125
gnomAD v2:
16-23652479-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641158C>A , CM000678.2:g.23641158C>A | GRCh38 |
| NC_000016.9:g.23652479C>A , CM000678.1:g.23652479C>A | GRCh37 |
| NC_000016.8:g.23559980C>A | NCBI36 |
| NG_007406.1:g.5200G>T , LRG_308:g.5200G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.-853G>T | ENSP00000460666.3:n.-853G>T | |
| ENST00000565038.2:c.-1G>T | ENSP00000459882.2:n.-1G>T | |
| ENST00000566069.6:c.-1G>T | ENSP00000459237.2:n.-1G>T | |
| ENST00000697377.2:c.-240G>T | ENSP00000513286.2:n.-240G>T | |
| ENST00000697379.2:c.-146G>T | ENSP00000513287.2:n.-146G>T | |
| ENST00000561514.2:c.-1744G>T | ENSP00000460666.2:n.-1744G>T | |
| ENST00000697374.1:c.-1335G>T | ENSP00000513284.1:n.-1335G>T | |
| ENST00000697376.1:c.-1056G>T | ENSP00000513285.1:n.-1056G>T | |
| ENST00000697377.1:c.-1131G>T | ENSP00000513286.1:n.-1131G>T | |
| ENST00000697379.1:c.-1037G>T | ENSP00000513287.1:n.-1037G>T | |
| ENST00000697382.1:c.-1795G>T | ENSP00000513288.1:n.-1795G>T | |
| ENST00000697383.1:c.-1G>T | ENSP00000513289.1:n.-1G>T | |
| ENST00000697384.1:n.154G>T | ||
| ENST00000261584.9:c.-1G>T MANE Select | ENSP00000261584.4:n.-1G>T | |
| ENST00000261584.8:c.-1G>T | ENSP00000261584.4:n.-1G>T | |
| ENST00000567003.1:n.144G>T | ||
| ENST00000568219.5:c.-869G>T | ENSP00000454703.2:n.-869G>T | |
| NM_024675.3:c.-1G>T , LRG_308t1:c.-1G>T | NP_078951.2:n.-1G>T | |
| XM_011545948.1:c.-1020G>T | XP_011544250.1:n.-1020G>T | |
| XM_011545946.2:c.-853G>T | XP_011544248.1:n.-853G>T | |
| XM_011545947.2:c.-853G>T | XP_011544249.1:n.-853G>T | |
| XM_011545948.2:c.-1020G>T | XP_011544250.1:n.-1020G>T | |
| XM_017023671.1:c.-853G>T | XP_016879160.1:n.-853G>T | |
| XM_017023672.2:c.-1G>T | XP_016879161.1:n.-1G>T | |
| XM_017023673.2:c.-1G>T | XP_016879162.1:n.-1G>T | |
| NM_024675.4:c.-1G>T MANE Select | NP_078951.2:n.-1G>T |