Canonical Allele Identifier:
CA11302855
Gene:
Linked Data
dbSNP Id:
rs17047731
gnomAD v2:
2-118840733-G-A
gnomAD v3:
2-118083157-G-A
gnomAD v4:
2-118083157-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.118083157G>A , CM000664.2:g.118083157G>A | GRCh38 |
| NC_000002.11:g.118840733G>A , CM000664.1:g.118840733G>A | GRCh37 |
| NC_000002.10:g.118557203G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011512305.1:c.696+4903C>T | XP_011510607.1:n.696+4903C>T | |
| XR_001739662.2:n.138+5094C>T |