Linked Data
dbSNP Id:
rs1713848317
gnomAD v4:
3-183039026-A-G
MyVariant Identifiers:
chr3:g.182756814A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183039026A>G , CM000665.2:g.183039026A>G | GRCh38 |
| NC_000003.11:g.182756814A>G , CM000665.1:g.182756814A>G | GRCh37 |
| NC_000003.10:g.184239508A>G | NCBI36 |
| NG_008100.1:g.65552T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265594.9:c.1377T>C MANE Select | ENSP00000265594.4:p.Asn459= | |
| ENST00000265594.8:c.1377T>C | ENSP00000265594.4:p.Asn459= | |
| ENST00000476176.5:c.1236T>C | ENSP00000420433.1:p.Asn412= | |
| ENST00000492597.5:c.1050T>C | ENSP00000419898.1:p.Asn350= | |
| ENST00000495767.5:c.*958T>C | ENSP00000419658.1:n.*958T>C | |
| ENST00000497830.5:c.*974T>C | ENSP00000420088.1:n.*974T>C | |
| ENST00000497959.5:c.1263T>C | ENSP00000420648.1:p.Asn421= | |
| ENST00000539926.5:c.927T>C | ENSP00000441253.2:p.Asn309= | |
| ENST00000610757.4:c.927T>C | ENSP00000480435.1:p.Asn309= | |
| ENST00000629669.2:c.1263T>C | ENSP00000486824.1:p.Asn421= | |
| NM_001293273.1:c.1026T>C | NP_001280202.1:p.Asn342= | |
| NM_020166.4:c.1377T>C | NP_064551.3:p.Asn459= | |
| NR_120639.1:n.1291T>C | ||
| NR_120640.1:n.2044T>C | ||
| XM_006713702.1:c.1050T>C | XP_006713765.1:p.Asn350= | |
| XM_011512992.1:c.1263T>C | XP_011511294.1:p.Asn421= | |
| XM_011512993.1:c.1377T>C | XP_011511295.1:p.Asn459= | |
| XR_241502.2:n.1524T>C | ||
| XR_924159.1:n.1524T>C | ||
| NM_001363880.1:c.1050T>C | NP_001350809.1:p.Asn350= | |
| XM_011512992.2:c.1263T>C | XP_011511294.1:p.Asn421= | |
| XR_001740207.2:n.1500T>C | ||
| XR_001740208.2:n.1500T>C | ||
| XR_001740209.2:n.1470T>C | ||
| XR_001740210.1:n.1330T>C | ||
| XR_002959553.1:n.1500T>C | ||
| XR_002959554.1:n.1500T>C | ||
| XR_241502.3:n.1470T>C | ||
| NM_020166.5:c.1377T>C MANE Select | NP_064551.3:p.Asn459= | |
| NM_001293273.2:c.1026T>C | NP_001280202.1:p.Asn342= | |
| NR_120639.2:n.1200T>C | ||
| NR_120640.2:n.2044T>C |