Linked Data
dbSNP Id:
rs750205427
ExAC:
11:67353874 C / A
gnomAD v2:
11-67353874-C-A
gnomAD v4:
11-67586403-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586403C>A , CM000673.2:g.67586403C>A | GRCh38 |
| NC_000011.9:g.67353874C>A , CM000673.1:g.67353874C>A | GRCh37 |
| NC_000011.8:g.67110450C>A | NCBI36 |
| NG_012075.1:g.7809C>A , LRG_723:g.7809C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.351C>A | ENSP00000381604.1:p.Asp117Glu | |
| ENST00000398606.10:c.459C>A MANE Select | ENSP00000381607.3:p.Asp153Glu | |
| ENST00000646888.1:c.*175C>A | ENSP00000494477.1:n.*175C>A | |
| ENST00000398603.5:c.351C>A | ENSP00000381604.1:p.Asp117Glu | |
| ENST00000398606.7:c.459C>A | ENSP00000381607.3:p.Asp153Glu | |
| ENST00000467591.1:n.570C>A | ||
| ENST00000494593.1:n.1431C>A | ||
| ENST00000495996.1:c.185C>A | ENSP00000484686.1:p.Thr62Asn | |
| ENST00000498765.5:c.522C>A | ||
| NM_000852.3:c.459C>A , LRG_723t1:c.459C>A | NP_000843.1:p.Asp153Glu | |
| NM_000852.4:c.459C>A MANE Select | NP_000843.1:p.Asp153Glu |