Linked Data
ClinVar Variation Id:
1413595
ClinVar RCV Id:
RCV001945066
dbSNP Id:
rs779617869
ExAC:
2:15359004 C / T
gnomAD v2:
2-15359004-C-T
gnomAD v3:
2-15218880-C-T
gnomAD v4:
2-15218880-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15218880C>T , CM000664.2:g.15218880C>T | GRCh38 |
| NC_000002.11:g.15359004C>T , CM000664.1:g.15359004C>T | GRCh37 |
| NC_000002.10:g.15276455C>T | NCBI36 |
| NG_032964.1:g.347469G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.4311G>A | ||
| ENST00000700062.1:c.4426+13542G>A | ||
| ENST00000700063.1:c.836G>A | ||
| ENST00000700064.1:c.2181G>A | ||
| ENST00000281513.10:c.6325G>A MANE Select | ENSP00000281513.5:p.Val2109Met | |
| ENST00000281513.9:c.6325G>A | ENSP00000281513.5:p.Val2109Met | |
| ENST00000417461.5:c.512+13542G>A | ENSP00000392421.1:n.512+13542G>A | |
| ENST00000442506.5:c.3468G>A | ||
| NM_015909.3:c.6325G>A | NP_056993.2:p.Val2109Met | |
| NR_052013.2:n.6280+13542G>A | ||
| XM_011510357.1:c.6196G>A | XP_011508659.1:p.Val2066Met | |
| XM_011510358.1:c.6325G>A | XP_011508660.1:p.Val2109Met | |
| XM_011510359.1:c.5686G>A | XP_011508661.1:p.Val1896Met | |
| XM_011510360.1:c.4126G>A | XP_011508662.1:p.Val1376Met | |
| XM_011510361.1:c.4117G>A | XP_011508663.1:p.Val1373Met | |
| XM_011510357.2:c.6196G>A | XP_011508659.1:p.Val2066Met | |
| XM_011510358.2:c.6325G>A | XP_011508660.1:p.Val2109Met | |
| XM_011510360.2:c.4126G>A | XP_011508662.1:p.Val1376Met | |
| XM_011510361.2:c.4117G>A | XP_011508663.1:p.Val1373Met | |
| XM_017004317.1:c.6325G>A | XP_016859806.1:p.Val2109Met | |
| XM_024452961.1:c.5686G>A | XP_024308729.1:p.Val1896Met | |
| NM_015909.4:c.6325G>A MANE Select | NP_056993.2:p.Val2109Met | |
| NR_052013.3:n.6266+13542G>A |