Linked Data
dbSNP Id:
rs568270781
gnomAD v2:
8-110109778-G-T
gnomAD v3:
8-109097549-G-T
gnomAD v4:
8-109097549-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.109097549G>T , CM000670.2:g.109097549G>T | GRCh38 |
| NC_000008.10:g.110109778G>T , CM000670.1:g.110109778G>T | GRCh37 |
| NC_000008.9:g.110178954G>T | NCBI36 |
| NG_017161.1:g.15103G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518632.2:c.789+9248G>T MANE Select | ENSP00000430711.2:n.789+9248G>T | |
| ENST00000311762.2:c.789+9248G>T | ENSP00000309818.2:n.789+9248G>T | |
| ENST00000518632.1:c.789+9248G>T | ENSP00000430711.1:n.789+9248G>T | |
| NM_003301.5:c.789+9248G>T | NP_003292.1:n.789+9248G>T | |
| XM_011517263.1:c.789+9248G>T | XP_011515565.1:n.789+9248G>T | |
| XM_011517263.2:c.789+9248G>T | XP_011515565.1:n.789+9248G>T | |
| NM_003301.7:c.789+9248G>T MANE Select | NP_003292.1:n.789+9248G>T |