Linked Data
dbSNP Id:
rs747192594
ExAC:
15:40943822 T / G
gnomAD v2:
15-40943822-T-G
gnomAD v3:
15-40651624-T-G
gnomAD v4:
15-40651624-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40651624T>G , CM000677.2:g.40651624T>G | GRCh38 |
| NC_000015.9:g.40943822T>G , CM000677.1:g.40943822T>G | GRCh37 |
| NC_000015.8:g.38731114T>G | NCBI36 |
| NG_033114.1:g.62376T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399668.7:c.6314+52T>G MANE Select | ENSP00000382576.3:n.6314+52T>G | |
| ENST00000346991.9:c.6392+52T>G | ENSP00000335463.6:n.6392+52T>G | |
| ENST00000399668.6:c.6314+52T>G | ENSP00000382576.2:n.6314+52T>G | |
| ENST00000526913.5:c.3447+52T>G | ||
| ENST00000532347.1:n.394+52T>G | ||
| NM_144508.4:c.6314+52T>G | NP_653091.3:n.6314+52T>G | |
| NM_170589.4:c.6392+52T>G | NP_733468.3:n.6392+52T>G | |
| XM_011521816.1:c.5990+52T>G | XP_011520118.1:n.5990+52T>G | |
| XM_011521817.1:c.6314+52T>G | XP_011520119.1:n.6314+52T>G | |
| XM_017022432.1:c.5990+52T>G | XP_016877921.1:n.5990+52T>G | |
| NM_144508.5:c.6314+52T>G MANE Select | NP_653091.3:n.6314+52T>G | |
| NM_170589.5:c.6392+52T>G | NP_733468.3:n.6392+52T>G |