Linked Data
dbSNP Id:
rs1391314143
gnomAD v2:
16-23652487-C-T
gnomAD v3:
16-23641166-C-T
gnomAD v4:
16-23641166-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641166C>T , CM000678.2:g.23641166C>T | GRCh38 |
| NC_000016.9:g.23652487C>T , CM000678.1:g.23652487C>T | GRCh37 |
| NC_000016.8:g.23559988C>T | NCBI36 |
| NG_007406.1:g.5192G>A , LRG_308:g.5192G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.-861G>A | ENSP00000460666.3:n.-861G>A | |
| ENST00000565038.2:c.-9G>A | ENSP00000459882.2:n.-9G>A | |
| ENST00000566069.6:c.-9G>A | ENSP00000459237.2:n.-9G>A | |
| ENST00000697377.2:c.-248G>A | ENSP00000513286.2:n.-248G>A | |
| ENST00000697379.2:c.-154G>A | ENSP00000513287.2:n.-154G>A | |
| ENST00000561514.2:c.-1752G>A | ENSP00000460666.2:n.-1752G>A | |
| ENST00000697374.1:c.-1343G>A | ENSP00000513284.1:n.-1343G>A | |
| ENST00000697376.1:c.-1064G>A | ENSP00000513285.1:n.-1064G>A | |
| ENST00000697377.1:c.-1139G>A | ENSP00000513286.1:n.-1139G>A | |
| ENST00000697379.1:c.-1045G>A | ENSP00000513287.1:n.-1045G>A | |
| ENST00000697382.1:c.-1803G>A | ENSP00000513288.1:n.-1803G>A | |
| ENST00000697383.1:c.-9G>A | ENSP00000513289.1:n.-9G>A | |
| ENST00000697384.1:n.146G>A | ||
| ENST00000261584.9:c.-9G>A MANE Select | ENSP00000261584.4:n.-9G>A | |
| ENST00000261584.8:c.-9G>A | ENSP00000261584.4:n.-9G>A | |
| ENST00000567003.1:n.136G>A | ||
| ENST00000568219.5:c.-877G>A | ENSP00000454703.2:n.-877G>A | |
| NM_024675.3:c.-9G>A , LRG_308t1:c.-9G>A | NP_078951.2:n.-9G>A | |
| XM_011545948.1:c.-1028G>A | XP_011544250.1:n.-1028G>A | |
| XM_011545946.2:c.-861G>A | XP_011544248.1:n.-861G>A | |
| XM_011545947.2:c.-861G>A | XP_011544249.1:n.-861G>A | |
| XM_011545948.2:c.-1028G>A | XP_011544250.1:n.-1028G>A | |
| XM_017023671.1:c.-861G>A | XP_016879160.1:n.-861G>A | |
| XM_017023672.2:c.-9G>A | XP_016879161.1:n.-9G>A | |
| XM_017023673.2:c.-9G>A | XP_016879162.1:n.-9G>A | |
| NM_024675.4:c.-9G>A MANE Select | NP_078951.2:n.-9G>A |