Linked Data
ClinVar Variation Id:
31079
ClinVar RCV Id:
RCV000024075
dbSNP Id:
rs387907095
gnomAD v4:
2-232523492-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523492G>C , CM000664.2:g.232523492G>C | GRCh38 |
| NC_000002.11:g.233388202G>C , CM000664.1:g.233388202G>C | GRCh37 |
| NC_000002.10:g.233096446G>C | NCBI36 |
| NG_008028.1:g.2281G>C | |
| NG_031969.1:g.8030G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617714.2:c.926G>C MANE Select | ENSP00000479745.1:p.Trp309Ser | |
| ENST00000449534.6:c.926G>C | ENSP00000473410.1:p.Trp309Ser | |
| ENST00000617714.1:c.926G>C | ENSP00000479745.1:p.Trp309Ser | |
| NM_001195129.1:c.926G>C | NP_001182058.1:p.Trp309Ser | |
| NM_001195129.2:c.926G>C MANE Select | NP_001182058.1:p.Trp309Ser | |
| NM_001369848.1:c.926G>C | NP_001356777.1:p.Trp309Ser |