Linked Data
dbSNP Id:
rs186852575
ExAC:
6:132172451 C / A
gnomAD v2:
6-132172451-C-A
gnomAD v4:
6-131851311-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851311C>A , CM000668.2:g.131851311C>A | GRCh38 |
| NC_000006.11:g.132172451C>A , CM000668.1:g.132172451C>A | GRCh37 |
| NC_000006.10:g.132214144C>A | NCBI36 |
| NG_008206.1:g.48296C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.556+44C>A MANE Select | ENSP00000498074.1:n.556+44C>A | |
| ENST00000650147.1:c.234+44C>A | ||
| ENST00000650437.1:c.108+1205C>A | ||
| ENST00000360971.6:c.556+44C>A | ENSP00000354238.2:n.556+44C>A | |
| ENST00000486853.1:n.620C>A | ||
| ENST00000513998.5:c.556+44C>A | ENSP00000422424.1:n.556+44C>A | |
| NM_006208.2:c.556+44C>A | NP_006199.2:n.556+44C>A | |
| NM_006208.3:c.556+44C>A MANE Select | NP_006199.2:n.556+44C>A |