Linked Data
dbSNP Id:
rs1006292603
gnomAD v2:
6-42730974-G-A
gnomAD v3:
6-42763236-G-A
gnomAD v4:
6-42763236-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42763236G>A , CM000668.2:g.42763236G>A | GRCh38 |
| NC_000006.11:g.42730974G>A , CM000668.1:g.42730974G>A | GRCh37 |
| NC_000006.10:g.42838952G>A | NCBI36 |
| NG_054763.1:g.21279G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614467.4:c.-261+16213G>A | ENSP00000482211.1:n.-261+16213G>A | |
| XR_926809.1:n.919+3302G>A | ||
| XR_926810.1:n.904+3302G>A | ||
| XR_926811.1:n.1175+3302G>A | ||
| NM_001318819.1:c.-365+16213G>A | NP_001305748.1:n.-365+16213G>A | |
| NM_001318819.2:c.-365+16213G>A | NP_001305748.1:n.-365+16213G>A |