Linked Data
dbSNP Id:
rs115797771
gnomAD v2:
13-73638643-A-C
gnomAD v3:
13-73064505-A-C
gnomAD v4:
13-73064505-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.73064505A>C , CM000675.2:g.73064505A>C | GRCh38 |
| NC_000013.10:g.73638643A>C , CM000675.1:g.73638643A>C | GRCh37 |
| NC_000013.9:g.72536644A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377687.6:c.1195+622A>C MANE Select | ENSP00000366915.4:n.1195+622A>C | |
| ENST00000377687.5:c.1195+622A>C | ENSP00000366915.4:n.1195+622A>C | |
| ENST00000539231.5:c.922+622A>C | ENSP00000440407.1:n.922+622A>C | |
| NM_001286818.1:c.922+622A>C | NP_001273747.1:n.922+622A>C | |
| NM_001730.4:c.1195+622A>C | NP_001721.2:n.1195+622A>C | |
| NM_001730.5:c.1195+622A>C MANE Select | NP_001721.2:n.1195+622A>C | |
| NM_001286818.2:c.922+622A>C | NP_001273747.1:n.922+622A>C |