Linked Data
dbSNP Id:
rs1265326733
gnomAD v2:
2-15358866-A-G
gnomAD v3:
2-15218742-A-G
gnomAD v4:
2-15218742-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15218742A>G , CM000664.2:g.15218742A>G | GRCh38 |
| NC_000002.11:g.15358866A>G , CM000664.1:g.15358866A>G | GRCh37 |
| NC_000002.10:g.15276317A>G | NCBI36 |
| NG_032964.1:g.347607T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.4418+31T>C | ||
| ENST00000700062.1:c.4426+13680T>C | ||
| ENST00000700063.1:c.943+31T>C | ||
| ENST00000700064.1:c.2288+31T>C | ||
| ENST00000281513.10:c.6432+31T>C MANE Select | ENSP00000281513.5:n.6432+31T>C | |
| ENST00000281513.9:c.6432+31T>C | ENSP00000281513.5:n.6432+31T>C | |
| ENST00000417461.5:c.512+13680T>C | ENSP00000392421.1:n.512+13680T>C | |
| ENST00000442506.5:c.3575+31T>C | ||
| NM_015909.3:c.6432+31T>C | NP_056993.2:n.6432+31T>C | |
| NR_052013.2:n.6280+13680T>C | ||
| XM_011510357.1:c.6303+31T>C | XP_011508659.1:n.6303+31T>C | |
| XM_011510358.1:c.6432+31T>C | XP_011508660.1:n.6432+31T>C | |
| XM_011510359.1:c.5793+31T>C | XP_011508661.1:n.5793+31T>C | |
| XM_011510360.1:c.4233+31T>C | XP_011508662.1:n.4233+31T>C | |
| XM_011510361.1:c.4224+31T>C | XP_011508663.1:n.4224+31T>C | |
| XM_011510357.2:c.6303+31T>C | XP_011508659.1:n.6303+31T>C | |
| XM_011510358.2:c.6432+31T>C | XP_011508660.1:n.6432+31T>C | |
| XM_011510360.2:c.4233+31T>C | XP_011508662.1:n.4233+31T>C | |
| XM_011510361.2:c.4224+31T>C | XP_011508663.1:n.4224+31T>C | |
| XM_017004317.1:c.6432+31T>C | XP_016859806.1:n.6432+31T>C | |
| XM_024452961.1:c.5793+31T>C | XP_024308729.1:n.5793+31T>C | |
| NM_015909.4:c.6432+31T>C MANE Select | NP_056993.2:n.6432+31T>C | |
| NR_052013.3:n.6266+13680T>C |