Linked Data
ClinVar Variation Id:
186035
dbSNP Id:
rs753153576
ExAC:
16:23637556 C / A
gnomAD v2:
16-23637556-C-A
gnomAD v4:
16-23626235-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23626235C>A , CM000678.2:g.23626235C>A | GRCh38 |
| NC_000016.9:g.23637556C>A , CM000678.1:g.23637556C>A | GRCh37 |
| NC_000016.8:g.23545057C>A | NCBI36 |
| NG_007406.1:g.20123G>T , LRG_308:g.20123G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2754+1G>T | ENSP00000460666.3:n.2754+1G>T | |
| ENST00000565038.2:c.*229+1G>T | ENSP00000459882.2:n.*229+1G>T | |
| ENST00000566069.6:c.2748+1G>T | ENSP00000459237.2:n.2748+1G>T | |
| ENST00000697377.2:c.2593-2141G>T | ENSP00000513286.2:n.2593-2141G>T | |
| ENST00000697379.2:c.2754+1G>T | ENSP00000513287.2:n.2754+1G>T | |
| ENST00000561514.2:c.1863+1G>T | ENSP00000460666.2:n.1863+1G>T | |
| ENST00000697374.1:c.1863+1G>T | ENSP00000513284.1:n.1863+1G>T | |
| ENST00000697375.1:n.4095+1G>T | ||
| ENST00000697376.1:c.1863+1G>T | ENSP00000513285.1:n.1863+1G>T | |
| ENST00000697377.1:c.1702-2141G>T | ENSP00000513286.1:n.1702-2141G>T | |
| ENST00000697378.1:n.3268+1G>T | ||
| ENST00000697379.1:c.1863+1G>T | ENSP00000513287.1:n.1863+1G>T | |
| ENST00000697380.1:n.2040+1G>T | ||
| ENST00000697381.1:n.1443+1G>T | ||
| ENST00000697382.1:c.1863+1G>T | ENSP00000513288.1:n.1863+1G>T | |
| ENST00000697383.1:c.282+1G>T | ENSP00000513289.1:n.282+1G>T | |
| ENST00000261584.9:c.2748+1G>T MANE Select | ENSP00000261584.4:n.2748+1G>T | |
| ENST00000261584.8:c.2748+1G>T | ENSP00000261584.4:n.2748+1G>T | |
| ENST00000565038.1:c.320+1G>T | ||
| ENST00000568219.5:c.1863+1G>T | ENSP00000454703.2:n.1863+1G>T | |
| NM_024675.3:c.2748+1G>T , LRG_308t1:c.2748+1G>T | NP_078951.2:n.2748+1G>T | |
| XM_011545946.1:c.2754+1G>T | XP_011544248.1:n.2754+1G>T | |
| XM_011545947.1:c.2754+1G>T | XP_011544249.1:n.2754+1G>T | |
| XM_011545948.1:c.1863+1G>T | XP_011544250.1:n.1863+1G>T | |
| XR_950851.1:n.3544+1G>T | ||
| XM_011545946.2:c.2754+1G>T | XP_011544248.1:n.2754+1G>T | |
| XM_011545947.2:c.2754+1G>T | XP_011544249.1:n.2754+1G>T | |
| XM_011545948.2:c.1863+1G>T | XP_011544250.1:n.1863+1G>T | |
| XM_017023671.1:c.2754+1G>T | XP_016879160.1:n.2754+1G>T | |
| XM_017023672.2:c.2748+1G>T | XP_016879161.1:n.2748+1G>T | |
| XM_017023673.2:c.2748+1G>T | XP_016879162.1:n.2748+1G>T | |
| NM_024675.4:c.2748+1G>T MANE Select | NP_078951.2:n.2748+1G>T |