Linked Data
dbSNP Id:
rs281860659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177016G>C , CM000678.2:g.177016G>C | GRCh38 |
| NC_000016.9:g.227015G>C , CM000678.1:g.227015G>C | GRCh37 |
| NC_000016.8:g.167015G>C | NCBI36 |
| NG_000006.1:g.37879G>C | |
| NG_059186.1:g.5366G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.183G>C MANE Select | ENSP00000322421.5:p.Lys61Asn | |
| ENST00000397797.1:c.87G>C | ENSP00000380899.1:p.Lys29Asn | |
| ENST00000472694.1:n.319G>C | ||
| ENST00000487791.1:n.152G>C | ||
| NM_000558.4:c.183G>C | NP_000549.1:p.Lys61Asn | |
| NM_000558.5:c.183G>C MANE Select | NP_000549.1:p.Lys61Asn |