Linked Data
dbSNP Id:
rs1375535504
gnomAD v2:
5-148207161-A-G
gnomAD v3:
5-148827598-A-G
gnomAD v4:
5-148827598-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827598A>G , CM000667.2:g.148827598A>G | GRCh38 |
| NC_000005.9:g.148207161A>G , CM000667.1:g.148207161A>G | GRCh37 |
| NC_000005.8:g.148187354A>G | NCBI36 |
| NG_016421.1:g.6006A>G | |
| NG_016421.2:g.6006A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.767A>G MANE Select | ENSP00000305372.4:p.His256Arg | |
| ENST00000305988.5:c.767A>G | ENSP00000305372.4:p.His256Arg | |
| NM_000024.5:c.767A>G | NP_000015.1:p.His256Arg | |
| NM_000024.6:c.767A>G MANE Select | NP_000015.2:p.His256Arg |