Linked Data
ClinVar Variation Id:
218967
dbSNP Id:
rs751325113
ExAC:
2:131099607 A / G
gnomAD v2:
2-131099607-A-G
gnomAD v3:
2-130342034-A-G
gnomAD v4:
2-130342034-A-G
PubMed:
PMID:26833332
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.130342034A>G , CM000664.2:g.130342034A>G | GRCh38 |
| NC_000002.11:g.131099607A>G , CM000664.1:g.131099607A>G | GRCh37 |
| NC_000002.10:g.130816077A>G | NCBI36 |
| NG_046779.1:g.5777T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259229.7:c.92T>C MANE Select | ENSP00000259229.2:p.Leu31Ser | |
| ENST00000651709.1:c.97-90T>C | ENSP00000499101.1:n.97-90T>C | |
| ENST00000259229.6:c.92T>C | ENSP00000259229.2:p.Leu31Ser | |
| ENST00000409127.1:c.97-90T>C | ENSP00000387301.1:n.97-90T>C | |
| ENST00000442217.5:c.92T>C | ENSP00000403480.1:p.Leu31Ser | |
| ENST00000465315.1:n.102T>C | ||
| NM_032357.3:c.92T>C | NP_115733.2:p.Leu31Ser | |
| NR_104471.1:n.549-90T>C | ||
| XM_005263825.1:c.97-90T>C | XP_005263882.1:n.97-90T>C | |
| XR_923045.1:n.777T>C | ||
| NM_001321118.1:c.97-90T>C | NP_001308047.1:n.97-90T>C | |
| NM_001321119.1:c.-34+5T>C | NP_001308048.1:n.-34+5T>C | |
| NR_135548.1:n.350T>C | ||
| NM_032357.4:c.92T>C MANE Select | NP_115733.2:p.Leu31Ser | |
| NM_001321119.2:c.87+5T>C | NP_001308048.2:n.87+5T>C | |
| NR_135548.2:n.131T>C |