Linked Data
ClinVar Variation Id:
46155
dbSNP Id:
rs199526104
ExAC:
3:14180744 G / C
gnomAD v2:
3-14180744-G-C
gnomAD v3:
3-14139244-G-C
gnomAD v4:
3-14139244-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14139244G>C , CM000665.2:g.14139244G>C | GRCh38 |
| NC_000003.11:g.14180744G>C , CM000665.1:g.14180744G>C | GRCh37 |
| NC_000003.10:g.14155745G>C | NCBI36 |
| NG_008975.1:g.19305G>C , LRG_435:g.19305G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432444.2:c.*977G>C | ENSP00000395617.1:n.*977G>C | |
| ENST00000306077.5:c.947G>C MANE Select | ENSP00000303992.5:p.Trp316Ser | |
| ENST00000306077.4:c.947G>C | ENSP00000303992.4:p.Trp316Ser | |
| ENST00000601399.3:n.274G>C | ||
| ENST00000608606.1:c.183G>C | ||
| NM_024334.2:c.947G>C , LRG_435t1:c.947G>C | NP_077310.1:p.Trp316Ser | |
| XM_011534109.1:c.842G>C | XP_011532411.1:p.Trp281Ser | |
| XM_017007176.2:c.842G>C | XP_016862665.1:p.Trp281Ser | |
| NM_024334.3:c.947G>C MANE Select | NP_077310.1:p.Trp316Ser |