Linked Data
dbSNP Id:
rs910845664
gnomAD v2:
15-40943832-G-T
gnomAD v3:
15-40651634-G-T
gnomAD v4:
15-40651634-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40651634G>T , CM000677.2:g.40651634G>T | GRCh38 |
| NC_000015.9:g.40943832G>T , CM000677.1:g.40943832G>T | GRCh37 |
| NC_000015.8:g.38731124G>T | NCBI36 |
| NG_033114.1:g.62386G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399668.7:c.6314+62G>T MANE Select | ENSP00000382576.3:n.6314+62G>T | |
| ENST00000346991.9:c.6392+62G>T | ENSP00000335463.6:n.6392+62G>T | |
| ENST00000399668.6:c.6314+62G>T | ENSP00000382576.2:n.6314+62G>T | |
| ENST00000526913.5:c.3447+62G>T | ||
| ENST00000532347.1:n.394+62G>T | ||
| NM_144508.4:c.6314+62G>T | NP_653091.3:n.6314+62G>T | |
| NM_170589.4:c.6392+62G>T | NP_733468.3:n.6392+62G>T | |
| XM_011521816.1:c.5990+62G>T | XP_011520118.1:n.5990+62G>T | |
| XM_011521817.1:c.6314+62G>T | XP_011520119.1:n.6314+62G>T | |
| XM_017022432.1:c.5990+62G>T | XP_016877921.1:n.5990+62G>T | |
| NM_144508.5:c.6314+62G>T MANE Select | NP_653091.3:n.6314+62G>T | |
| NM_170589.5:c.6392+62G>T | NP_733468.3:n.6392+62G>T |