Linked Data
ClinVar Variation Id:
376724
ClinVar RCV Id:
RCV000422333
dbSNP Id:
rs1057520026
COSMIC:
COSM24667
PubMed:
PMID:16990784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28028244T>G , CM000675.2:g.28028244T>G | GRCh38 |
| NC_000013.10:g.28602381T>G , CM000675.1:g.28602381T>G | GRCh37 |
| NC_000013.9:g.27500381T>G | NCBI36 |
| NG_007066.1:g.77325A>C , LRG_457:g.77325A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241453.12:c.1987A>C MANE Select | ENSP00000241453.7:p.Lys663Gln | |
| ENST00000241453.11:c.1987A>C | ENSP00000241453.7:p.Lys663Gln | |
| ENST00000380987.2:c.1987A>C | ENSP00000370374.2:p.Lys663Gln | |
| NM_004119.2:c.1987A>C , LRG_457t1:c.1987A>C | NP_004110.2:p.Lys663Gln | |
| NR_130706.1:n.2069A>C | ||
| XM_011535015.1:c.1930A>C | XP_011533317.1:p.Lys644Gln | |
| XM_011535016.1:c.1462A>C | XP_011533318.1:p.Lys488Gln | |
| XM_011535017.1:c.1462A>C | XP_011533319.1:p.Lys488Gln | |
| XM_011535018.1:c.1462A>C | XP_011533320.1:p.Lys488Gln | |
| XM_011535015.2:c.1930A>C | XP_011533317.1:p.Lys644Gln | |
| XM_011535017.2:c.1462A>C | XP_011533319.1:p.Lys488Gln | |
| XM_011535018.2:c.1462A>C | XP_011533320.1:p.Lys488Gln | |
| XM_017020486.1:c.1771A>C | XP_016875975.1:p.Lys591Gln | |
| XM_017020487.1:c.1462A>C | XP_016875976.1:p.Lys488Gln | |
| XM_017020488.1:c.1108A>C | XP_016875977.1:p.Lys370Gln | |
| XM_017020489.1:c.1090A>C | XP_016875978.1:p.Lys364Gln | |
| NM_004119.3:c.1987A>C MANE Select | NP_004110.2:p.Lys663Gln | |
| NR_130706.2:n.2053A>C |