Linked Data
dbSNP Id:
rs331
gnomAD v2:
8-19820405-G-A
gnomAD v3:
8-19962894-G-A
gnomAD v4:
8-19962894-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962894G>A , CM000670.2:g.19962894G>A | GRCh38 |
| NC_000008.10:g.19820405G>A , CM000670.1:g.19820405G>A | GRCh37 |
| NC_000008.9:g.19864685G>A | NCBI36 |
| NG_008855.1:g.28824G>A | |
| NG_008855.2:g.66178G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1427+675G>A MANE Select | ENSP00000497642.1:n.1427+675G>A | |
| ENST00000650478.1:c.367+675G>A | ENSP00000497560.1:n.367+675G>A | |
| ENST00000311322.8:c.1427+675G>A | ENSP00000309757.6:n.1427+675G>A | |
| NM_000237.2:c.1427+675G>A | NP_000228.1:n.1427+675G>A | |
| NM_000237.3:c.1427+675G>A MANE Select | NP_000228.1:n.1427+675G>A |