Linked Data
ClinVar Variation Id:
18402
ClinVar RCV Id:
RCV000000557
dbSNP Id:
rs267606802
PubMed:
PMID:20799338
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335525A>T , CM000667.2:g.128335525A>T | GRCh38 |
| NC_000005.9:g.127671217A>T , CM000667.1:g.127671217A>T | GRCh37 |
| NC_000005.8:g.127699116A>T | NCBI36 |
| NG_008750.1:g.207519T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.561T>A | ||
| ENST00000703785.1:n.642T>A | ||
| ENST00000262464.9:c.3777T>A MANE Select | ENSP00000262464.4:p.Asn1259Lys | |
| ENST00000262464.8:c.3777T>A | ENSP00000262464.4:p.Asn1259Lys | |
| ENST00000507835.5:c.327T>A | ENSP00000426839.1:p.Asn109Lys | |
| ENST00000508053.5:c.3777T>A | ENSP00000424571.1:p.Asn1259Lys | |
| ENST00000508989.5:c.3678T>A | ENSP00000425596.1:p.Asn1226Lys | |
| ENST00000619499.4:c.3774T>A | ENSP00000482132.1:p.Asn1258Lys | |
| NM_001999.3:c.3777T>A | NP_001990.2:p.Asn1259Lys | |
| XM_017009228.2:c.3624T>A | XP_016864717.1:p.Asn1208Lys | |
| NM_001999.4:c.3777T>A MANE Select | NP_001990.2:p.Asn1259Lys |