Linked Data
ClinVar Variation Id:
136738
ClinVar RCV Id:
RCV001701674
dbSNP Id:
rs587780887
ExAC:
2:131350516 C / G
gnomAD v2:
2-131350516-C-G
gnomAD v3:
2-130592943-C-G
gnomAD v4:
2-130592943-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.130592943C>G , CM000664.2:g.130592943C>G | GRCh38 |
| NC_000002.11:g.131350516C>G , CM000664.1:g.131350516C>G | GRCh37 |
| NC_000002.10:g.131066986C>G | NCBI36 |
| NG_008148.1:g.11567G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259216.6:c.606G>C MANE Select | ENSP00000259216.5:p.Leu202= | |
| ENST00000259216.4:c.606G>C | ENSP00000259216.4:p.Leu202= | |
| ENST00000615342.4:c.491G>C | ENSP00000480526.1:p.Trp164Ser | |
| ENST00000621673.4:c.381G>C | ENSP00000480843.1:p.Leu127= | |
| NM_001270420.1:c.491G>C | NP_001257349.1:p.Trp164Ser | |
| NM_001270421.1:c.381G>C | NP_001257350.1:p.Leu127= | |
| NM_032545.3:c.606G>C | NP_115934.1:p.Leu202= | |
| NM_032545.4:c.606G>C MANE Select | NP_115934.1:p.Leu202= | |
| NM_001270420.2:c.491G>C | NP_001257349.1:p.Trp164Ser | |
| NM_001270421.2:c.381G>C | NP_001257350.1:p.Leu127= |