Linked Data
dbSNP Id:
rs11564258
gnomAD v2:
12-40792300-G-A
gnomAD v3:
12-40398498-G-A
gnomAD v4:
12-40398498-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40398498G>A , CM000674.2:g.40398498G>A | GRCh38 |
| NC_000012.11:g.40792300G>A , CM000674.1:g.40792300G>A | GRCh37 |
| NC_000012.10:g.39078567G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454784.10:c.85+587G>A | ENSP00000508949.1:n.85+587G>A | |
| ENST00000676020.2:n.138+587G>A | ||
| ENST00000454784.9:n.138+587G>A | ||
| ENST00000676020.1:c.85+587G>A | ENSP00000502529.1:n.85+587G>A | |
| NM_173600.2:c.85+587G>A | NP_775871.2:n.85+587G>A | |
| XR_944866.1:n.409+62C>T | ||
| XR_944867.1:n.409+62C>T | ||
| XR_944868.1:n.409+62C>T | ||
| XR_944869.1:n.409+62C>T | ||
| XR_944870.1:n.305-2512C>T | ||
| XR_944872.1:n.415+62C>T | ||
| XR_944873.1:n.271+62C>T | ||
| XR_001749087.1:n.305-2512C>T | ||
| XR_001749088.1:n.271+62C>T | ||
| XR_944868.2:n.409+62C>T | ||
| XR_944869.2:n.409+62C>T |