Linked Data
dbSNP Id:
rs537322305
ExAC:
4:120241938 G / C
gnomAD v2:
4-120241938-G-C
gnomAD v3:
4-119320783-G-C
gnomAD v4:
4-119320783-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320783G>C , CM000666.2:g.119320783G>C | GRCh38 |
| NC_000004.11:g.120241938G>C , CM000666.1:g.120241938G>C | GRCh37 |
| NC_000004.10:g.120461386G>C | NCBI36 |
| NG_011444.1:g.6379C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.127C>G MANE Select | ENSP00000274024.3:p.Gln43Glu | |
| ENST00000274024.3:c.127C>G | ENSP00000274024.3:p.Gln43Glu | |
| NM_000134.3:c.127C>G | NP_000125.2:p.Gln43Glu | |
| NM_000134.4:c.127C>G MANE Select | NP_000125.2:p.Gln43Glu |