Linked Data
ClinVar Variation Id:
183327
ClinVar RCV Id:
RCV000162150
dbSNP Id:
rs730882230
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128408688C>T , CM000667.2:g.128408688C>T | GRCh38 |
| NC_000005.9:g.127744381C>T , CM000667.1:g.127744381C>T | GRCh37 |
| NC_000005.8:g.127772280C>T | NCBI36 |
| NG_008750.1:g.134355G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508053.6:c.1064G>A | ENSP00000424571.2:p.Gly355Asp | |
| ENST00000703787.1:n.771G>A | ||
| ENST00000262464.9:c.1064G>A MANE Select | ENSP00000262464.4:p.Gly355Asp | |
| ENST00000262464.8:c.1064G>A | ENSP00000262464.4:p.Gly355Asp | |
| ENST00000508053.5:c.1064G>A | ENSP00000424571.1:p.Gly355Asp | |
| ENST00000508989.5:c.965G>A | ENSP00000425596.1:p.Gly322Asp | |
| ENST00000619499.4:c.1061G>A | ENSP00000482132.1:p.Gly354Asp | |
| NM_001999.3:c.1064G>A | NP_001990.2:p.Gly355Asp | |
| XM_017009228.2:c.1064G>A | XP_016864717.1:p.Gly355Asp | |
| NM_001999.4:c.1064G>A MANE Select | NP_001990.2:p.Gly355Asp |