Linked Data
dbSNP Id:
rs752348828
ExAC:
19:55666066 C / G
gnomAD v2:
19-55666066-C-G
gnomAD v4:
19-55154698-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154698C>G , CM000681.2:g.55154698C>G | GRCh38 |
| NC_000019.9:g.55666066C>G , CM000681.1:g.55666066C>G | GRCh37 |
| NC_000019.8:g.60357878C>G | NCBI36 |
| NG_007866.2:g.8035G>C , LRG_432:g.8035G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.372+43G>C MANE Select | ENSP00000341838.5:n.372+43G>C | |
| ENST00000665070.1:c.405+10G>C | ENSP00000499482.1:n.405+10G>C | |
| ENST00000344887.9:c.372+43G>C | ENSP00000341838.5:n.372+43G>C | |
| ENST00000585806.5:n.371+43G>C | ||
| ENST00000586669.5:n.380+43G>C | ||
| ENST00000587176.5:n.599G>C | ||
| ENST00000588882.1:c.297+43G>C | ENSP00000466729.1:n.297+43G>C | |
| NM_000363.4:c.372+43G>C , LRG_432t1:c.372+43G>C | NP_000354.4:n.372+43G>C | |
| NM_000363.5:c.372+43G>C MANE Select | NP_000354.4:n.372+43G>C |