Linked Data
ClinVar Variation Id:
1931
ClinVar RCV Id:
RCV000002008
dbSNP Id:
rs119103214
PubMed:
PMID:11181649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183037218C>G , CM000665.2:g.183037218C>G | GRCh38 |
| NC_000003.11:g.182755006C>G , CM000665.1:g.182755006C>G | GRCh37 |
| NC_000003.10:g.184237700C>G | NCBI36 |
| NG_008100.1:g.67360G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265594.9:c.1594G>C MANE Select | ENSP00000265594.4:p.Asp532His | |
| ENST00000265594.8:c.1594G>C | ENSP00000265594.4:p.Asp532His | |
| ENST00000476176.5:c.1453G>C | ENSP00000420433.1:p.Asp485His | |
| ENST00000489909.1:n.138G>C | ||
| ENST00000492597.5:c.1267G>C | ENSP00000419898.1:p.Asp423His | |
| ENST00000495767.5:c.*1175G>C | ENSP00000419658.1:n.*1175G>C | |
| ENST00000497830.5:c.*1191G>C | ENSP00000420088.1:n.*1191G>C | |
| ENST00000497959.5:c.1263+1808G>C | ENSP00000420648.1:n.1263+1808G>C | |
| ENST00000539926.5:c.1144G>C | ENSP00000441253.2:p.Asp382His | |
| ENST00000610757.4:c.1144G>C | ENSP00000480435.1:p.Asp382His | |
| ENST00000629669.2:c.1263+1808G>C | ENSP00000486824.1:n.1263+1808G>C | |
| NM_001293273.1:c.1243G>C | NP_001280202.1:p.Asp415His | |
| NM_020166.4:c.1594G>C | NP_064551.3:p.Asp532His | |
| NR_120639.1:n.1508G>C | ||
| NR_120640.1:n.2044+1808G>C | ||
| XM_006713702.1:c.1267G>C | XP_006713765.1:p.Asp423His | |
| XM_011512992.1:c.1480G>C | XP_011511294.1:p.Asp494His | |
| XM_011512993.1:c.1377+1808G>C | XP_011511295.1:n.1377+1808G>C | |
| XR_241502.2:n.1524+1808G>C | ||
| XR_924159.1:n.1741G>C | ||
| NM_001363880.1:c.1267G>C | NP_001350809.1:p.Asp423His | |
| XM_011512992.2:c.1480G>C | XP_011511294.1:p.Asp494His | |
| XR_001740207.2:n.1717G>C | ||
| XR_001740208.2:n.1717G>C | ||
| XR_001740209.2:n.1470+1808G>C | ||
| XR_001740210.1:n.1547G>C | ||
| XR_002959553.1:n.1717G>C | ||
| XR_002959554.1:n.1500+1808G>C | ||
| XR_241502.3:n.1470+1808G>C | ||
| NM_020166.5:c.1594G>C MANE Select | NP_064551.3:p.Asp532His | |
| NM_001293273.2:c.1243G>C | NP_001280202.1:p.Asp415His | |
| NR_120639.2:n.1417G>C | ||
| NR_120640.2:n.2044+1808G>C |