Linked Data
ClinVar Variation Id:
8337
ClinVar RCV Id:
RCV000008839
dbSNP Id:
rs104893702
PubMed:
PMID:9920108
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122254330A>C , CM000665.2:g.122254330A>C | GRCh38 |
| NC_000003.11:g.121973177A>C , CM000665.1:g.121973177A>C | GRCh37 |
| NC_000003.10:g.123455867A>C | NCBI36 |
| NG_009058.1:g.75648A>C | |
| NG_009058.2:g.75663A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.141A>C | ENSP00000418685.2:p.Lys47Asn | |
| ENST00000498619.4:c.141A>C | ENSP00000420194.1:p.Lys47Asn | |
| ENST00000638296.1:n.60A>C | ||
| ENST00000638421.1:c.141A>C | ENSP00000492190.1:p.Lys47Asn | |
| ENST00000639785.2:c.141A>C MANE Select | ENSP00000491584.2:p.Lys47Asn | |
| ENST00000490131.5:c.141A>C | ENSP00000418685.1:p.Lys47Asn | |
| ENST00000498619.2:c.141A>C | ENSP00000420194.1:p.Lys47Asn | |
| NM_000388.3:c.141A>C | NP_000379.2:p.Lys47Asn | |
| NM_001178065.1:c.141A>C | NP_001171536.1:p.Lys47Asn | |
| XM_005247836.2:c.141A>C | XP_005247893.1:p.Lys47Asn | |
| XM_005247837.2:c.-36A>C | XP_005247894.1:n.-36A>C | |
| XM_006713789.2:c.141A>C | XP_006713852.1:p.Lys47Asn | |
| XM_011513237.1:c.141A>C | XP_011511539.1:p.Lys47Asn | |
| XM_011513238.1:c.141A>C | XP_011511540.1:p.Lys47Asn | |
| XM_006713789.3:c.141A>C | XP_006713852.1:p.Lys47Asn | |
| XM_017007324.1:c.141A>C | XP_016862813.1:p.Lys47Asn | |
| XM_017007325.1:c.141A>C | XP_016862814.1:p.Lys47Asn | |
| NM_000388.4:c.141A>C MANE Select | NP_000379.3:p.Lys47Asn | |
| NM_001178065.2:c.141A>C | NP_001171536.2:p.Lys47Asn |