Linked Data
ClinVar Variation Id:
431762
ClinVar RCV Id:
RCV000497257
dbSNP Id:
rs1135402917
PubMed:
PMID:28657829
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207331243G>C , CM000663.2:g.207331243G>C | GRCh38 |
| NC_000001.10:g.207504588G>C , CM000663.1:g.207504588G>C | GRCh37 |
| NC_000001.9:g.205571211G>C | NCBI36 |
| NG_007465.1:g.14772G>C , LRG_127:g.14772G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695822.1:n.1047G>C | ||
| ENST00000695823.1:c.664+4406G>C | ENSP00000512200.1:n.664+4406G>C | |
| ENST00000695824.1:c.800G>C | ENSP00000512201.1:p.Cys267Ser | |
| ENST00000695825.1:c.800G>C | ENSP00000512202.1:p.Cys267Ser | |
| ENST00000695826.1:c.800G>C | ENSP00000512203.1:p.Cys267Ser | |
| ENST00000695827.1:n.1028G>C | ||
| ENST00000695828.1:c.664+4406G>C | ENSP00000512204.1:n.664+4406G>C | |
| ENST00000695829.1:n.905G>C | ||
| ENST00000367064.9:c.800G>C MANE Select | ENSP00000356031.4:p.Cys267Ser | |
| ENST00000391921.9:c.608G>C | ENSP00000375788.4:p.Cys203Ser | |
| ENST00000488171.6:n.415G>C | ||
| ENST00000618707.2:c.304G>C | ||
| ENST00000635614.2:c.142G>C | ||
| ENST00000644836.1:c.800G>C | ENSP00000495518.1:p.Cys267Ser | |
| ENST00000645323.1:c.800G>C | ENSP00000496251.1:p.Cys267Ser | |
| ENST00000314754.12:c.800G>C | ENSP00000316333.8:p.Cys267Ser | |
| ENST00000343420.6:c.829G>C | ||
| ENST00000367063.6:c.800G>C | ENSP00000356030.2:p.Cys267Ser | |
| ENST00000367064.7:c.800G>C | ENSP00000356031.3:p.Cys267Ser | |
| ENST00000367067.8:c.800G>C | ENSP00000356034.5:p.Cys267Ser | |
| ENST00000391921.8:c.608G>C | ENSP00000375788.4:p.Cys203Ser | |
| ENST00000465534.5:n.415G>C | ||
| ENST00000476590.1:n.415G>C | ||
| ENST00000488171.5:n.879G>C | ||
| ENST00000635614.1:n.136G>C | ||
| NM_000574.4:c.800G>C | NP_000565.1:p.Cys267Ser | |
| NM_001114752.2:c.800G>C | NP_001108224.1:p.Cys267Ser | |
| NM_001300902.1:c.800G>C | NP_001287831.1:p.Cys267Ser | |
| NM_001300903.1:c.800G>C | NP_001287832.1:p.Cys267Ser | |
| NM_001300904.1:c.800G>C | NP_001287833.1:p.Cys267Ser | |
| NR_125349.1:n.1094G>C | ||
| XM_017000467.2:c.800G>C | XP_016855956.1:p.Cys267Ser | |
| NM_000574.5:c.800G>C MANE Select | NP_000565.1:p.Cys267Ser | |
| NM_001114752.3:c.800G>C | NP_001108224.1:p.Cys267Ser | |
| NM_001300902.2:c.800G>C | NP_001287831.1:p.Cys267Ser | |
| NM_001300903.2:c.800G>C | NP_001287832.1:p.Cys267Ser | |
| NM_001300904.2:c.800G>C | NP_001287833.1:p.Cys267Ser | |
| NR_125349.2:n.888G>C |