Linked Data
dbSNP Id:
rs1057101793
gnomAD v2:
13-32889604-C-T
gnomAD v3:
13-32315467-C-T
gnomAD v4:
13-32315467-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315467C>T , CM000675.2:g.32315467C>T | GRCh38 |
| NC_000013.10:g.32889604C>T , CM000675.1:g.32889604C>T | GRCh37 |
| NC_000013.9:g.31787604C>T | NCBI36 |
| NG_012772.3:g.4988C>T , LRG_293:g.4988C>T | |
| NG_017006.1:g.1488G>A | |
| NG_017006.2:g.4897G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544455.6:c.-40+322C>T | ENSP00000439902.1:n.-40+322C>T | |
| XM_011535203.1:c.-40+322C>T | XP_011533505.1:n.-40+322C>T |