Linked Data
dbSNP Id:
rs11940694
gnomAD v2:
4-39414993-A-G
gnomAD v3:
4-39413373-A-G
gnomAD v4:
4-39413373-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39413373A>G , CM000666.2:g.39413373A>G | GRCh38 |
| NC_000004.11:g.39414993A>G , CM000666.1:g.39414993A>G | GRCh37 |
| NC_000004.10:g.39091388A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257408.5:c.825+5599A>G MANE Select | ENSP00000257408.4:n.825+5599A>G | |
| ENST00000257408.4:c.825+5599A>G | ENSP00000257408.4:n.825+5599A>G | |
| NM_175737.3:c.825+5599A>G | NP_783864.1:n.825+5599A>G | |
| XM_005262644.1:c.825+5599A>G | XP_005262701.1:n.825+5599A>G | |
| NM_175737.4:c.825+5599A>G MANE Select | NP_783864.1:n.825+5599A>G |