Linked Data
dbSNP Id:
rs994774849
gnomAD v2:
4-120241904-C-T
gnomAD v3:
4-119320749-C-T
gnomAD v4:
4-119320749-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320749C>T , CM000666.2:g.119320749C>T | GRCh38 |
| NC_000004.11:g.120241904C>T , CM000666.1:g.120241904C>T | GRCh37 |
| NC_000004.10:g.120461352C>T | NCBI36 |
| NG_011444.1:g.6413G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.161G>A MANE Select | ENSP00000274024.3:p.Ser54Asn | |
| ENST00000274024.3:c.161G>A | ENSP00000274024.3:p.Ser54Asn | |
| NM_000134.3:c.161G>A | NP_000125.2:p.Ser54Asn | |
| NM_000134.4:c.161G>A MANE Select | NP_000125.2:p.Ser54Asn |