Linked Data
ClinVar Variation Id:
8274
ClinVar RCV Id:
RCV000008763
RCV000043675
RCV000158022
RCV000521479
RCV001813182
RCV003390660
RCV003450621
dbSNP Id:
rs121434499
ERepo:
CA119417/MONDO:0021060/004
PubMed:
PMID:18042262
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4110559A>G , CM000681.2:g.4110559A>G | GRCh38 |
| NC_000019.9:g.4110557A>G , CM000681.1:g.4110557A>G | GRCh37 |
| NC_000019.8:g.4061557A>G | NCBI36 |
| NG_007996.1:g.18570T>C , LRG_750:g.18570T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.839T>C | ||
| ENST00000687128.1:n.839T>C | ||
| ENST00000262948.10:c.400T>C MANE Select | ENSP00000262948.4:p.Tyr134His | |
| ENST00000262948.9:c.400T>C | ENSP00000262948.3:p.Tyr134His | |
| ENST00000394867.8:c.109T>C | ENSP00000378336.1:p.Tyr37His | |
| ENST00000599345.1:n.597T>C | ||
| NM_030662.3:c.400T>C , LRG_750t1:c.400T>C | NP_109587.1:p.Tyr134His | |
| XM_006722799.2:c.400T>C | XP_006722862.1:p.Tyr134His | |
| XM_017026989.1:c.400T>C | XP_016882478.1:p.Tyr134His | |
| XM_017026990.1:c.400T>C | XP_016882479.1:p.Tyr134His | |
| XM_017026991.1:c.400T>C | XP_016882480.1:p.Tyr134His | |
| NM_030662.4:c.400T>C MANE Select | NP_109587.1:p.Tyr134His |