Linked Data
dbSNP Id:
rs16917040
gnomAD v2:
9-115282036-T-C
gnomAD v3:
9-112519756-T-C
gnomAD v4:
9-112519756-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.112519756T>C , CM000671.2:g.112519756T>C | GRCh38 |
| NC_000009.11:g.115282036T>C , CM000671.1:g.115282036T>C | GRCh37 |
| NC_000009.10:g.114321857T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337530.11:c.-25+32638T>C MANE Select | ENSP00000336940.6:n.-25+32638T>C | |
| ENST00000337530.10:c.-25+32638T>C | ENSP00000336940.6:n.-25+32638T>C | |
| ENST00000374244.3:c.-25+32638T>C | ENSP00000363362.3:n.-25+32638T>C | |
| ENST00000536272.5:c.-25+32638T>C | ENSP00000440504.1:n.-25+32638T>C | |
| NM_001287036.1:c.-25+32638T>C | NP_001273965.1:n.-25+32638T>C | |
| NM_001287038.1:c.-25+32638T>C | NP_001273967.1:n.-25+32638T>C | |
| NM_133465.3:c.-25+32638T>C | NP_597722.1:n.-25+32638T>C | |
| XM_006716978.2:c.-25+32638T>C | XP_006717041.1:n.-25+32638T>C | |
| XM_011518310.1:c.-25+32638T>C | XP_011516612.1:n.-25+32638T>C | |
| NM_001287038.2:c.-25+32638T>C | NP_001273967.1:n.-25+32638T>C | |
| NM_133465.4:c.-25+32638T>C MANE Select | NP_597722.1:n.-25+32638T>C | |
| NM_001287036.2:c.-25+32638T>C | NP_001273965.1:n.-25+32638T>C |