Linked Data
ClinVar Variation Id:
15905
ClinVar RCV Id:
RCV000017256
dbSNP Id:
rs137853226
PubMed:
PMID:7737262
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50256262C>G , CM000665.2:g.50256262C>G | GRCh38 |
| NC_000003.11:g.50293694C>G , CM000665.1:g.50293694C>G | GRCh37 |
| NC_000003.10:g.50268698C>G | NCBI36 |
| NG_016002.2:g.34575C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313601.11:c.535C>G MANE Select | ENSP00000312999.6:p.Arg179Gly | |
| ENST00000266027.9:c.379C>G | ENSP00000266027.6:p.Arg127Gly | |
| ENST00000313601.10:c.535C>G | ENSP00000312999.6:p.Arg179Gly | |
| ENST00000422163.5:c.487C>G | ENSP00000406871.1:p.Arg163Gly | |
| ENST00000440628.5:c.379C>G | ENSP00000395736.1:p.Arg127Gly | |
| ENST00000441156.5:c.*63C>G | ENSP00000394321.1:n.*63C>G | |
| ENST00000446079.5:c.*170C>G | ENSP00000406065.1:n.*170C>G | |
| ENST00000451956.1:c.424C>G | ENSP00000406369.1:p.Arg142Gly | |
| ENST00000468422.1:n.102C>G | ||
| ENST00000490122.5:n.1362C>G | ||
| ENST00000491100.5:n.2351C>G | ||
| NM_001166425.1:c.424C>G | NP_001159897.1:p.Arg142Gly | |
| NM_001282617.1:c.379C>G | NP_001269546.1:p.Arg127Gly | |
| NM_001282618.1:c.292C>G | NP_001269547.1:p.Arg98Gly | |
| NM_001282619.1:c.487C>G | NP_001269548.1:p.Arg163Gly | |
| NM_001282620.1:c.487C>G | NP_001269549.1:p.Arg163Gly | |
| NM_002070.3:c.535C>G | NP_002061.1:p.Arg179Gly | |
| NM_002070.4:c.535C>G MANE Select | NP_002061.1:p.Arg179Gly | |
| NM_001166425.2:c.424C>G | NP_001159897.1:p.Arg142Gly | |
| NM_001282618.2:c.292C>G | NP_001269547.1:p.Arg98Gly | |
| NM_001282619.2:c.487C>G | NP_001269548.1:p.Arg163Gly | |
| NM_001282620.2:c.487C>G | NP_001269549.1:p.Arg163Gly | |
| NM_001282617.2:c.379C>G | NP_001269546.1:p.Arg127Gly |