Linked Data
ClinVar Variation Id:
2572500
ClinVar RCV Id:
RCV003314385
dbSNP Id:
rs2137622655
COSMIC:
COSM5879380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28018475T>C , CM000675.2:g.28018475T>C | GRCh38 |
| NC_000013.10:g.28592612T>C , CM000675.1:g.28592612T>C | GRCh37 |
| NC_000013.9:g.27490612T>C | NCBI36 |
| NG_007066.1:g.87094A>G , LRG_457:g.87094A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2533A>G MANE Select | ENSP00000241453.7:p.Arg845Gly | |
| ENST00000241453.11:c.2533A>G | ENSP00000241453.7:p.Arg845Gly | |
| ENST00000380987.2:c.*445A>G | ENSP00000370374.2:n.*445A>G | |
| NM_004119.2:c.2533A>G , LRG_457t1:c.2533A>G | NP_004110.2:p.Arg845Gly | |
| NR_130706.1:n.2747A>G | ||
| XM_011535015.1:c.2476A>G | XP_011533317.1:p.Arg826Gly | |
| XM_011535016.1:c.2008A>G | XP_011533318.1:p.Arg670Gly | |
| XM_011535017.1:c.2008A>G | XP_011533319.1:p.Arg670Gly | |
| XM_011535018.1:c.2008A>G | XP_011533320.1:p.Arg670Gly | |
| XM_011535015.2:c.2476A>G | XP_011533317.1:p.Arg826Gly | |
| XM_011535017.2:c.2008A>G | XP_011533319.1:p.Arg670Gly | |
| XM_011535018.2:c.2008A>G | XP_011533320.1:p.Arg670Gly | |
| XM_017020486.1:c.2317A>G | XP_016875975.1:p.Arg773Gly | |
| XM_017020487.1:c.2008A>G | XP_016875976.1:p.Arg670Gly | |
| XM_017020488.1:c.1654A>G | XP_016875977.1:p.Arg552Gly | |
| XM_017020489.1:c.1636A>G | XP_016875978.1:p.Arg546Gly | |
| NM_004119.3:c.2533A>G MANE Select | NP_004110.2:p.Arg845Gly | |
| NR_130706.2:n.2731A>G |