Linked Data
ClinVar Variation Id:
213328
dbSNP Id:
rs199665922
ExAC:
5:127664405 T / C
gnomAD v2:
5-127664405-T-C
gnomAD v3:
5-128328713-T-C
gnomAD v4:
5-128328713-T-C
PubMed:
PMID:25944730
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128328713T>C , CM000667.2:g.128328713T>C | GRCh38 |
| NC_000005.9:g.127664405T>C , CM000667.1:g.127664405T>C | GRCh37 |
| NC_000005.8:g.127692304T>C | NCBI36 |
| NG_008750.1:g.214331A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1238A>G | ||
| ENST00000703785.1:n.1319A>G | ||
| ENST00000703786.1:n.1060A>G | ||
| ENST00000262464.9:c.4454A>G MANE Select | ENSP00000262464.4:p.Asp1485Gly | |
| ENST00000262464.8:c.4454A>G | ENSP00000262464.4:p.Asp1485Gly | |
| ENST00000507835.5:c.1004A>G | ENSP00000426839.1:p.Asp335Gly | |
| ENST00000508053.5:c.4454A>G | ENSP00000424571.1:p.Asp1485Gly | |
| ENST00000508989.5:c.4355A>G | ENSP00000425596.1:p.Asp1452Gly | |
| ENST00000619499.4:c.4451A>G | ENSP00000482132.1:p.Asp1484Gly | |
| NM_001999.3:c.4454A>G | NP_001990.2:p.Asp1485Gly | |
| XM_017009228.2:c.4301A>G | XP_016864717.1:p.Asp1434Gly | |
| NM_001999.4:c.4454A>G MANE Select | NP_001990.2:p.Asp1485Gly |