Linked Data
ClinVar Variation Id:
2177557
ClinVar RCV Id:
RCV002585601
dbSNP Id:
rs553094685
ExAC:
2:15359013 G / A
gnomAD v2:
2-15359013-G-A
gnomAD v3:
2-15218889-G-A
gnomAD v4:
2-15218889-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15218889G>A , CM000664.2:g.15218889G>A | GRCh38 |
| NC_000002.11:g.15359013G>A , CM000664.1:g.15359013G>A | GRCh37 |
| NC_000002.10:g.15276464G>A | NCBI36 |
| NG_032964.1:g.347460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.4302C>T | ||
| ENST00000700062.1:c.4426+13533C>T | ||
| ENST00000700063.1:c.827C>T | ||
| ENST00000700064.1:c.2172C>T | ||
| ENST00000281513.10:c.6316C>T MANE Select | ENSP00000281513.5:p.Arg2106Cys | |
| ENST00000281513.9:c.6316C>T | ENSP00000281513.5:p.Arg2106Cys | |
| ENST00000417461.5:c.512+13533C>T | ENSP00000392421.1:n.512+13533C>T | |
| ENST00000442506.5:c.3459C>T | ||
| NM_015909.3:c.6316C>T | NP_056993.2:p.Arg2106Cys | |
| NR_052013.2:n.6280+13533C>T | ||
| XM_011510357.1:c.6187C>T | XP_011508659.1:p.Arg2063Cys | |
| XM_011510358.1:c.6316C>T | XP_011508660.1:p.Arg2106Cys | |
| XM_011510359.1:c.5677C>T | XP_011508661.1:p.Arg1893Cys | |
| XM_011510360.1:c.4117C>T | XP_011508662.1:p.Arg1373Cys | |
| XM_011510361.1:c.4108C>T | XP_011508663.1:p.Arg1370Cys | |
| XM_011510357.2:c.6187C>T | XP_011508659.1:p.Arg2063Cys | |
| XM_011510358.2:c.6316C>T | XP_011508660.1:p.Arg2106Cys | |
| XM_011510360.2:c.4117C>T | XP_011508662.1:p.Arg1373Cys | |
| XM_011510361.2:c.4108C>T | XP_011508663.1:p.Arg1370Cys | |
| XM_017004317.1:c.6316C>T | XP_016859806.1:p.Arg2106Cys | |
| XM_024452961.1:c.5677C>T | XP_024308729.1:p.Arg1893Cys | |
| NM_015909.4:c.6316C>T MANE Select | NP_056993.2:p.Arg2106Cys | |
| NR_052013.3:n.6266+13533C>T |