Linked Data
dbSNP Id:
rs12153391
gnomAD v2:
5-171203438-C-A
gnomAD v3:
5-171776434-C-A
gnomAD v4:
5-171776434-C-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.171776434C>A , CM000667.2:g.171776434C>A | GRCh38 |
| NC_000005.9:g.171203438C>A , CM000667.1:g.171203438C>A | GRCh37 |
| NC_000005.8:g.171136043C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011534623.1:c.3+2476C>A | XP_011532925.1:n.3+2476C>A | |
| XM_011534624.1:c.3+2476C>A | XP_011532926.1:n.3+2476C>A | |
| XM_011534623.2:c.3+2476C>A | XP_011532925.1:n.3+2476C>A | |
| XM_011534624.2:c.3+2476C>A | XP_011532926.1:n.3+2476C>A |