Linked Data
ClinVar Variation Id:
141643
dbSNP Id:
rs587781902
gnomAD v2:
16-23652480-G-A
gnomAD v4:
16-23641159-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641159G>A , CM000678.2:g.23641159G>A | GRCh38 |
| NC_000016.9:g.23652480G>A , CM000678.1:g.23652480G>A | GRCh37 |
| NC_000016.8:g.23559981G>A | NCBI36 |
| NG_007406.1:g.5199C>T , LRG_308:g.5199C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.-854C>T | ENSP00000460666.3:n.-854C>T | |
| ENST00000565038.2:c.-2C>T | ENSP00000459882.2:n.-2C>T | |
| ENST00000566069.6:c.-2C>T | ENSP00000459237.2:n.-2C>T | |
| ENST00000697377.2:c.-241C>T | ENSP00000513286.2:n.-241C>T | |
| ENST00000697379.2:c.-147C>T | ENSP00000513287.2:n.-147C>T | |
| ENST00000561514.2:c.-1745C>T | ENSP00000460666.2:n.-1745C>T | |
| ENST00000697374.1:c.-1336C>T | ENSP00000513284.1:n.-1336C>T | |
| ENST00000697376.1:c.-1057C>T | ENSP00000513285.1:n.-1057C>T | |
| ENST00000697377.1:c.-1132C>T | ENSP00000513286.1:n.-1132C>T | |
| ENST00000697379.1:c.-1038C>T | ENSP00000513287.1:n.-1038C>T | |
| ENST00000697382.1:c.-1796C>T | ENSP00000513288.1:n.-1796C>T | |
| ENST00000697383.1:c.-2C>T | ENSP00000513289.1:n.-2C>T | |
| ENST00000697384.1:n.153C>T | ||
| ENST00000261584.9:c.-2C>T MANE Select | ENSP00000261584.4:n.-2C>T | |
| ENST00000261584.8:c.-2C>T | ENSP00000261584.4:n.-2C>T | |
| ENST00000567003.1:n.143C>T | ||
| ENST00000568219.5:c.-870C>T | ENSP00000454703.2:n.-870C>T | |
| NM_024675.3:c.-2C>T , LRG_308t1:c.-2C>T | NP_078951.2:n.-2C>T | |
| XM_011545948.1:c.-1021C>T | XP_011544250.1:n.-1021C>T | |
| XM_011545946.2:c.-854C>T | XP_011544248.1:n.-854C>T | |
| XM_011545947.2:c.-854C>T | XP_011544249.1:n.-854C>T | |
| XM_011545948.2:c.-1021C>T | XP_011544250.1:n.-1021C>T | |
| XM_017023671.1:c.-854C>T | XP_016879160.1:n.-854C>T | |
| XM_017023672.2:c.-2C>T | XP_016879161.1:n.-2C>T | |
| XM_017023673.2:c.-2C>T | XP_016879162.1:n.-2C>T | |
| NM_024675.4:c.-2C>T MANE Select | NP_078951.2:n.-2C>T |