Linked Data
ClinVar Variation Id:
376108
ClinVar RCV Id:
RCV000427705
dbSNP Id:
rs1057519766
COSMIC:
COSM5879387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28028203G>C , CM000675.2:g.28028203G>C | GRCh38 |
| NC_000013.10:g.28602340G>C , CM000675.1:g.28602340G>C | GRCh37 |
| NC_000013.9:g.27500340G>C | NCBI36 |
| NG_007066.1:g.77366C>G , LRG_457:g.77366C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2028C>G MANE Select | ENSP00000241453.7:p.Asn676Lys | |
| ENST00000241453.11:c.2028C>G | ENSP00000241453.7:p.Asn676Lys | |
| ENST00000380987.2:c.2028C>G | ENSP00000370374.2:p.Asn676Lys | |
| NM_004119.2:c.2028C>G , LRG_457t1:c.2028C>G | NP_004110.2:p.Asn676Lys | |
| NR_130706.1:n.2110C>G | ||
| XM_011535015.1:c.1971C>G | XP_011533317.1:p.Asn657Lys | |
| XM_011535016.1:c.1503C>G | XP_011533318.1:p.Asn501Lys | |
| XM_011535017.1:c.1503C>G | XP_011533319.1:p.Asn501Lys | |
| XM_011535018.1:c.1503C>G | XP_011533320.1:p.Asn501Lys | |
| XM_011535015.2:c.1971C>G | XP_011533317.1:p.Asn657Lys | |
| XM_011535017.2:c.1503C>G | XP_011533319.1:p.Asn501Lys | |
| XM_011535018.2:c.1503C>G | XP_011533320.1:p.Asn501Lys | |
| XM_017020486.1:c.1812C>G | XP_016875975.1:p.Asn604Lys | |
| XM_017020487.1:c.1503C>G | XP_016875976.1:p.Asn501Lys | |
| XM_017020488.1:c.1149C>G | XP_016875977.1:p.Asn383Lys | |
| XM_017020489.1:c.1131C>G | XP_016875978.1:p.Asn377Lys | |
| NM_004119.3:c.2028C>G MANE Select | NP_004110.2:p.Asn676Lys | |
| NR_130706.2:n.2094C>G |