Linked Data
dbSNP Id:
rs770278498
ExAC:
16:23652499 A / G
gnomAD v2:
16-23652499-A-G
gnomAD v4:
16-23641178-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641178A>G , CM000678.2:g.23641178A>G | GRCh38 |
| NC_000016.9:g.23652499A>G , CM000678.1:g.23652499A>G | GRCh37 |
| NC_000016.8:g.23560000A>G | NCBI36 |
| NG_007406.1:g.5180T>C , LRG_308:g.5180T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.-873T>C | ENSP00000460666.3:n.-873T>C | |
| ENST00000565038.2:c.-21T>C | ENSP00000459882.2:n.-21T>C | |
| ENST00000566069.6:c.-21T>C | ENSP00000459237.2:n.-21T>C | |
| ENST00000697377.2:c.-260T>C | ENSP00000513286.2:n.-260T>C | |
| ENST00000697379.2:c.-166T>C | ENSP00000513287.2:n.-166T>C | |
| ENST00000561514.2:c.-1764T>C | ENSP00000460666.2:n.-1764T>C | |
| ENST00000697374.1:c.-1355T>C | ENSP00000513284.1:n.-1355T>C | |
| ENST00000697376.1:c.-1076T>C | ENSP00000513285.1:n.-1076T>C | |
| ENST00000697377.1:c.-1151T>C | ENSP00000513286.1:n.-1151T>C | |
| ENST00000697379.1:c.-1057T>C | ENSP00000513287.1:n.-1057T>C | |
| ENST00000697382.1:c.-1815T>C | ENSP00000513288.1:n.-1815T>C | |
| ENST00000697383.1:c.-21T>C | ENSP00000513289.1:n.-21T>C | |
| ENST00000697384.1:n.134T>C | ||
| ENST00000261584.9:c.-21T>C MANE Select | ENSP00000261584.4:n.-21T>C | |
| ENST00000261584.8:c.-21T>C | ENSP00000261584.4:n.-21T>C | |
| ENST00000567003.1:n.124T>C | ||
| ENST00000568219.5:c.-889T>C | ENSP00000454703.2:n.-889T>C | |
| NM_024675.3:c.-21T>C , LRG_308t1:c.-21T>C | NP_078951.2:n.-21T>C | |
| XM_011545948.1:c.-1040T>C | XP_011544250.1:n.-1040T>C | |
| XM_011545946.2:c.-873T>C | XP_011544248.1:n.-873T>C | |
| XM_011545947.2:c.-873T>C | XP_011544249.1:n.-873T>C | |
| XM_011545948.2:c.-1040T>C | XP_011544250.1:n.-1040T>C | |
| XM_017023671.1:c.-873T>C | XP_016879160.1:n.-873T>C | |
| XM_017023672.2:c.-21T>C | XP_016879161.1:n.-21T>C | |
| XM_017023673.2:c.-21T>C | XP_016879162.1:n.-21T>C | |
| NM_024675.4:c.-21T>C MANE Select | NP_078951.2:n.-21T>C |