Linked Data
dbSNP Id:
rs2070094056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19966832A>C , CM000670.2:g.19966832A>C | GRCh38 |
| NC_000008.10:g.19824343A>C , CM000670.1:g.19824343A>C | GRCh37 |
| NC_000008.9:g.19868623A>C | NCBI36 |
| NG_008855.1:g.32762A>C | |
| NG_008855.2:g.70116A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.*1522A>C MANE Select | ENSP00000497642.1:n.*1522A>C | |
| ENST00000650478.1:c.1890A>C | ENSP00000497560.1:n.1890A>C | |
| ENST00000311322.8:c.*1522A>C | ENSP00000309757.6:n.*1522A>C | |
| NM_000237.2:c.*1522A>C | NP_000228.1:n.*1522A>C | |
| NM_000237.3:c.*1522A>C MANE Select | NP_000228.1:n.*1522A>C |