Linked Data
dbSNP Id:
rs1270984610
gnomAD v2:
2-15359255-T-C
gnomAD v3:
2-15219131-T-C
gnomAD v4:
2-15219131-T-C
COSMIC:
COSN1798723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15219131T>C , CM000664.2:g.15219131T>C | GRCh38 |
| NC_000002.11:g.15359255T>C , CM000664.1:g.15359255T>C | GRCh37 |
| NC_000002.10:g.15276706T>C | NCBI36 |
| NG_032964.1:g.347218A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.4223-163A>G | ||
| ENST00000700062.1:c.4426+13291A>G | ||
| ENST00000700063.1:c.748-163A>G | ||
| ENST00000700064.1:c.2093-163A>G | ||
| ENST00000281513.10:c.6237-163A>G MANE Select | ENSP00000281513.5:n.6237-163A>G | |
| ENST00000281513.9:c.6237-163A>G | ENSP00000281513.5:n.6237-163A>G | |
| ENST00000417461.5:c.512+13291A>G | ENSP00000392421.1:n.512+13291A>G | |
| ENST00000442506.5:c.3380-163A>G | ||
| NM_015909.3:c.6237-163A>G | NP_056993.2:n.6237-163A>G | |
| NR_052013.2:n.6280+13291A>G | ||
| XM_011510357.1:c.6108-163A>G | XP_011508659.1:n.6108-163A>G | |
| XM_011510358.1:c.6237-163A>G | XP_011508660.1:n.6237-163A>G | |
| XM_011510359.1:c.5598-163A>G | XP_011508661.1:n.5598-163A>G | |
| XM_011510360.1:c.4038-163A>G | XP_011508662.1:n.4038-163A>G | |
| XM_011510361.1:c.4029-163A>G | XP_011508663.1:n.4029-163A>G | |
| XM_011510357.2:c.6108-163A>G | XP_011508659.1:n.6108-163A>G | |
| XM_011510358.2:c.6237-163A>G | XP_011508660.1:n.6237-163A>G | |
| XM_011510360.2:c.4038-163A>G | XP_011508662.1:n.4038-163A>G | |
| XM_011510361.2:c.4029-163A>G | XP_011508663.1:n.4029-163A>G | |
| XM_017004317.1:c.6237-163A>G | XP_016859806.1:n.6237-163A>G | |
| XM_024452961.1:c.5598-163A>G | XP_024308729.1:n.5598-163A>G | |
| NM_015909.4:c.6237-163A>G MANE Select | NP_056993.2:n.6237-163A>G | |
| NR_052013.3:n.6266+13291A>G |