Linked Data
ClinVar Variation Id:
161589
ClinVar RCV Id:
RCV000149125
dbSNP Id:
rs193920763
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128291644T>G , CM000667.2:g.128291644T>G | GRCh38 |
| NC_000005.9:g.127627336T>G , CM000667.1:g.127627336T>G | GRCh37 |
| NC_000005.8:g.127655235T>G | NCBI36 |
| NG_008750.1:g.251400A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2961A>C | ||
| ENST00000703785.1:n.2880A>C | ||
| ENST00000262464.9:c.6177A>C MANE Select | ENSP00000262464.4:p.Glu2059Asp | |
| ENST00000262464.8:c.6177A>C | ENSP00000262464.4:p.Glu2059Asp | |
| ENST00000508053.5:c.6177A>C | ENSP00000424571.1:p.Glu2059Asp | |
| ENST00000619499.4:c.6174A>C | ENSP00000482132.1:p.Glu2058Asp | |
| NM_001999.3:c.6177A>C | NP_001990.2:p.Glu2059Asp | |
| XM_017009228.2:c.6024A>C | XP_016864717.1:p.Glu2008Asp | |
| NM_001999.4:c.6177A>C MANE Select | NP_001990.2:p.Glu2059Asp |