Linked Data
dbSNP Id:
rs766922154
ExAC:
8:19813306 G / T
gnomAD v2:
8-19813306-G-T
gnomAD v3:
8-19955795-G-T
gnomAD v4:
8-19955795-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955795G>T , CM000670.2:g.19955795G>T | GRCh38 |
| NC_000008.10:g.19813306G>T , CM000670.1:g.19813306G>T | GRCh37 |
| NC_000008.9:g.19857586G>T | NCBI36 |
| NG_008855.1:g.21725G>T | |
| NG_008855.2:g.59079G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.776-46G>T MANE Select | ENSP00000497642.1:n.776-46G>T | |
| ENST00000311322.8:c.776-46G>T | ENSP00000309757.6:n.776-46G>T | |
| NM_000237.2:c.776-46G>T | NP_000228.1:n.776-46G>T | |
| NM_000237.3:c.776-46G>T MANE Select | NP_000228.1:n.776-46G>T |