Linked Data
ClinVar Variation Id:
161670
ClinVar RCV Id:
RCV000149206
dbSNP Id:
rs193920851
COSMIC:
COSM1179705
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231275496G>C , CM000663.2:g.231275496G>C | GRCh38 |
| NC_000001.10:g.231411242G>C , CM000663.1:g.231411242G>C | GRCh37 |
| NC_000001.9:g.229477865G>C | NCBI36 |
| NG_008240.1:g.39324G>C | |
| NG_008240.2:g.39324G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.1935G>C MANE Select | ENSP00000355607.4:p.Lys645Asn | |
| ENST00000644483.1:c.*1621G>C | ENSP00000496537.1:n.*1621G>C | |
| ENST00000366647.8:c.1935G>C | ENSP00000355607.4:p.Lys645Asn | |
| ENST00000469332.1:n.517G>C | ||
| NM_001316350.1:c.1752G>C | NP_001303279.1:p.Lys584Asn | |
| NM_014236.3:c.1935G>C | NP_055051.1:p.Lys645Asn | |
| XM_005273313.3:c.1932G>C | XP_005273370.1:p.Lys644Asn | |
| XM_011544303.1:c.1608G>C | XP_011542605.1:p.Lys536Asn | |
| XM_011544304.1:c.1608G>C | XP_011542606.1:p.Lys536Asn | |
| XM_005273313.4:c.1932G>C | XP_005273370.1:p.Lys644Asn | |
| XM_011544303.3:c.1608G>C | XP_011542605.1:p.Lys536Asn | |
| XM_011544304.2:c.1608G>C | XP_011542606.1:p.Lys536Asn | |
| NM_014236.4:c.1935G>C MANE Select | NP_055051.1:p.Lys645Asn | |
| NM_001316350.2:c.1752G>C | NP_001303279.1:p.Lys584Asn |