Linked Data
ClinVar Variation Id:
379698
ClinVar RCV Id:
RCV000441741
dbSNP Id:
rs1057520695
gnomAD v4:
3-183092514-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183092514G>C , CM000665.2:g.183092514G>C | GRCh38 |
| NC_000003.11:g.182810302G>C , CM000665.1:g.182810302G>C | GRCh37 |
| NC_000003.10:g.184292996G>C | NCBI36 |
| NG_008100.1:g.12064C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265594.9:c.168C>G MANE Select | ENSP00000265594.4:p.Asn56Lys | |
| ENST00000265594.8:c.168C>G | ENSP00000265594.4:p.Asn56Lys | |
| ENST00000466650.5:c.136+2045C>G | ENSP00000418979.1:n.136+2045C>G | |
| ENST00000473955.1:n.81C>G | ||
| ENST00000476176.5:c.136+2045C>G | ENSP00000420433.1:n.136+2045C>G | |
| ENST00000486226.1:c.168C>G | ENSP00000420223.1:p.Asn56Lys | |
| ENST00000487634.5:c.136+2045C>G | ENSP00000420591.1:n.136+2045C>G | |
| ENST00000490284.5:c.89+6838C>G | ENSP00000419328.1:n.89+6838C>G | |
| ENST00000492597.5:c.-55+2045C>G | ENSP00000419898.1:n.-55+2045C>G | |
| ENST00000495767.5:c.136+2045C>G | ENSP00000419658.1:n.136+2045C>G | |
| ENST00000497830.5:c.136+2045C>G | ENSP00000420088.1:n.136+2045C>G | |
| ENST00000497959.5:c.54C>G | ENSP00000420648.1:p.Asn18Lys | |
| ENST00000539926.5:c.-55+2045C>G | ENSP00000441253.2:n.-55+2045C>G | |
| ENST00000610757.4:c.-160C>G | ENSP00000480435.1:n.-160C>G | |
| ENST00000629669.2:c.54C>G | ENSP00000486824.1:p.Asn18Lys | |
| NM_001293273.1:c.44+2045C>G | NP_001280202.1:n.44+2045C>G | |
| NM_020166.4:c.168C>G | NP_064551.3:p.Asn56Lys | |
| NR_120639.1:n.283+2045C>G | ||
| NR_120640.1:n.835C>G | ||
| XM_006713702.1:c.-55+2045C>G | XP_006713765.1:n.-55+2045C>G | |
| XM_011512992.1:c.54C>G | XP_011511294.1:p.Asn18Lys | |
| XM_011512993.1:c.168C>G | XP_011511295.1:p.Asn56Lys | |
| XR_241502.2:n.315C>G | ||
| XR_924159.1:n.315C>G | ||
| NM_001363880.1:c.-55+2045C>G | NP_001350809.1:n.-55+2045C>G | |
| XM_011512992.2:c.54C>G | XP_011511294.1:p.Asn18Lys | |
| XR_001740207.2:n.291C>G | ||
| XR_001740208.2:n.291C>G | ||
| XR_001740209.2:n.261C>G | ||
| XR_001740210.1:n.226+2045C>G | ||
| XR_002959553.1:n.291C>G | ||
| XR_002959554.1:n.291C>G | ||
| XR_241502.3:n.261C>G | ||
| NM_020166.5:c.168C>G MANE Select | NP_064551.3:p.Asn56Lys | |
| NM_001293273.2:c.44+2045C>G | NP_001280202.1:n.44+2045C>G | |
| NR_120639.2:n.192+2045C>G | ||
| NR_120640.2:n.835C>G |