Linked Data
dbSNP Id:
rs314
gnomAD v2:
8-19818042-G-A
gnomAD v3:
8-19960531-G-A
gnomAD v4:
8-19960531-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960531G>A , CM000670.2:g.19960531G>A | GRCh38 |
| NC_000008.10:g.19818042G>A , CM000670.1:g.19818042G>A | GRCh37 |
| NC_000008.9:g.19862322G>A | NCBI36 |
| NG_008855.1:g.26461G>A | |
| NG_008855.2:g.63815G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1140-370G>A MANE Select | ENSP00000497642.1:n.1140-370G>A | |
| ENST00000650478.1:c.80-370G>A | ENSP00000497560.1:n.80-370G>A | |
| ENST00000311322.8:c.1140-370G>A | ENSP00000309757.6:n.1140-370G>A | |
| NM_000237.2:c.1140-370G>A | NP_000228.1:n.1140-370G>A | |
| NM_000237.3:c.1140-370G>A MANE Select | NP_000228.1:n.1140-370G>A |