Linked Data
ClinVar Variation Id:
161814
ClinVar RCV Id:
RCV000149350
dbSNP Id:
rs193920912
COSMIC:
COSM1180146
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.37947673G>C , CM000677.2:g.37947673G>C | GRCh38 |
| NC_000015.9:g.38239874G>C , CM000677.1:g.38239874G>C | GRCh37 |
| NC_000015.8:g.36027166G>C | NCBI36 |
| NG_052635.1:g.18067G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319669.5:c.645G>C MANE Select | ENSP00000327234.4:p.Lys215Asn | |
| ENST00000319669.4:c.645G>C | ENSP00000327234.4:p.Lys215Asn | |
| ENST00000559502.5:c.645G>C | ENSP00000454112.1:p.Lys215Asn | |
| ENST00000560653.5:c.*85G>C | ENSP00000453561.1:n.*85G>C | |
| NM_152453.3:c.645G>C | NP_689666.2:p.Lys215Asn | |
| XM_005254168.2:c.645G>C | XP_005254225.1:p.Lys215Asn | |
| XM_011521262.1:c.645G>C | XP_011519564.1:p.Lys215Asn | |
| XM_011521263.1:c.645G>C | XP_011519565.1:p.Lys215Asn | |
| NM_001330255.1:c.645G>C | NP_001317184.1:p.Lys215Asn | |
| XM_005254168.3:c.645G>C | XP_005254225.1:p.Lys215Asn | |
| XM_011521262.2:c.645G>C | XP_011519564.1:p.Lys215Asn | |
| XR_002957626.1:n.848G>C | ||
| NM_001370735.1:c.645G>C | NP_001357664.1:p.Lys215Asn | |
| NM_001370736.1:c.687G>C | NP_001357665.1:p.Lys229Asn | |
| NM_001370737.1:c.645G>C | NP_001357666.1:p.Lys215Asn | |
| NR_163584.1:n.834G>C | ||
| NR_163585.1:n.802G>C | ||
| NM_001330255.2:c.645G>C | NP_001317184.1:p.Lys215Asn | |
| NM_152453.4:c.645G>C MANE Select | NP_689666.2:p.Lys215Asn |