Linked Data
dbSNP Id:
rs751421606
ExAC:
5:95764986 A / G
gnomAD v2:
5-95764986-A-G
gnomAD v4:
5-96429282-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96429282A>G , CM000667.2:g.96429282A>G | GRCh38 |
| NC_000005.9:g.95764986A>G , CM000667.1:g.95764986A>G | GRCh37 |
| NC_000005.8:g.95790742A>G | NCBI36 |
| NG_021161.1:g.9000T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.216T>C MANE Select | ENSP00000308024.2:p.His72= | |
| ENST00000311106.7:c.216T>C | ENSP00000308024.2:p.His72= | |
| ENST00000508626.5:c.75T>C | ENSP00000421600.1:p.His25= | |
| ENST00000509190.1:c.216T>C | ENSP00000427294.1:p.His72= | |
| NM_000439.4:c.216T>C | NP_000430.3:p.His72= | |
| NM_001177875.1:c.75T>C | NP_001171346.1:p.His25= | |
| NR_130776.1:n.354+49630A>G | ||
| NM_000439.5:c.216T>C MANE Select | NP_000430.3:p.His72= | |
| NM_001177875.2:c.75T>C | NP_001171346.1:p.His25= |