Linked Data
dbSNP Id:
rs767733785
ExAC:
4:39448577 C / G
gnomAD v2:
4-39448577-C-G
gnomAD v3:
4-39446957-C-G
gnomAD v4:
4-39446957-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446957C>G , CM000666.2:g.39446957C>G | GRCh38 |
| NC_000004.11:g.39448577C>G , CM000666.1:g.39448577C>G | GRCh37 |
| NC_000004.10:g.39124972C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2231C>G MANE Select | ENSP00000257408.4:p.Ala744Gly | |
| ENST00000257408.4:c.2231C>G | ENSP00000257408.4:p.Ala744Gly | |
| NM_175737.3:c.2231C>G | NP_783864.1:p.Ala744Gly | |
| XM_005262644.1:c.2204C>G | XP_005262701.1:p.Ala735Gly | |
| NM_175737.4:c.2231C>G MANE Select | NP_783864.1:p.Ala744Gly |