Linked Data
dbSNP Id:
rs779395084
ExAC:
4:120241964 T / G
gnomAD v2:
4-120241964-T-G
gnomAD v4:
4-119320809-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320809T>G , CM000666.2:g.119320809T>G | GRCh38 |
| NC_000004.11:g.120241964T>G , CM000666.1:g.120241964T>G | GRCh37 |
| NC_000004.10:g.120461412T>G | NCBI36 |
| NG_011444.1:g.6353A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.101A>C MANE Select | ENSP00000274024.3:p.His34Pro | |
| ENST00000274024.3:c.101A>C | ENSP00000274024.3:p.His34Pro | |
| NM_000134.3:c.101A>C | NP_000125.2:p.His34Pro | |
| NM_000134.4:c.101A>C MANE Select | NP_000125.2:p.His34Pro |