Linked Data
dbSNP Id:
rs281864775
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177019G>C , CM000678.2:g.177019G>C | GRCh38 |
| NC_000016.9:g.227018G>C , CM000678.1:g.227018G>C | GRCh37 |
| NC_000016.8:g.167018G>C | NCBI36 |
| NG_000006.1:g.37882G>C | |
| NG_059186.1:g.5369G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.186G>C MANE Select | ENSP00000322421.5:p.Lys62Asn | |
| ENST00000397797.1:c.90G>C | ENSP00000380899.1:p.Lys30Asn | |
| ENST00000472694.1:n.322G>C | ||
| ENST00000487791.1:n.155G>C | ||
| NM_000558.4:c.186G>C | NP_000549.1:p.Lys62Asn | |
| NM_000558.5:c.186G>C MANE Select | NP_000549.1:p.Lys62Asn |