Linked Data
dbSNP Id:
rs17824620
gnomAD v2:
12-113100994-C-A
gnomAD v3:
12-112663189-C-A
gnomAD v4:
12-112663189-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112663189C>A , CM000674.2:g.112663189C>A | GRCh38 |
| NC_000012.11:g.113100994C>A , CM000674.1:g.113100994C>A | GRCh37 |
| NC_000012.10:g.111585377C>A | NCBI36 |
| NG_052871.1:g.93093C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000543106.6:c.-140+87870C>A | ENSP00000440384.2:n.-140+87870C>A | |
| ENST00000546426.5:c.-140+11362C>A | ENSP00000447639.1:n.-140+11362C>A | |
| ENST00000546703.5:c.-140+45347C>A | ENSP00000446556.1:n.-140+45347C>A | |
| ENST00000547686.5:c.-101+11362C>A | ENSP00000449705.1:n.-101+11362C>A | |
| ENST00000547840.5:c.-140+71589C>A | ENSP00000450382.1:n.-140+71589C>A | |
| ENST00000548197.5:c.-140+92645C>A | ENSP00000446570.1:n.-140+92645C>A | |
| ENST00000549736.5:c.-140+11362C>A | ENSP00000446789.1:n.-140+11362C>A | |
| ENST00000551593.5:c.-19+87870C>A | ENSP00000446780.1:n.-19+87870C>A | |
| ENST00000551748.5:c.-19+11362C>A | ENSP00000447306.1:n.-19+11362C>A | |
| NM_001347952.1:c.-140+87870C>A | NP_001334881.1:n.-140+87870C>A | |
| NM_001347952.2:c.-140+87870C>A | NP_001334881.1:n.-140+87870C>A |