Linked Data
dbSNP Id:
rs1215919000
gnomAD v2:
12-58157909-T-C
gnomAD v3:
12-57764126-T-C
gnomAD v4:
12-57764126-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764126T>C , CM000674.2:g.57764126T>C | GRCh38 |
| NC_000012.11:g.58157909T>C , CM000674.1:g.58157909T>C | GRCh37 |
| NC_000012.10:g.56444176T>C | NCBI36 |
| NG_007076.1:g.8068A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1268A>G | ENSP00000518840.1:p.His423Arg | |
| ENST00000713545.1:c.*192A>G | ENSP00000518841.1:n.*192A>G | |
| ENST00000228606.9:c.1187A>G MANE Select | ENSP00000228606.4:p.His396Arg | |
| ENST00000228606.8:c.1187A>G | ENSP00000228606.4:p.His396Arg | |
| ENST00000547344.5:n.1326A>G | ||
| NM_000785.3:c.1187A>G | NP_000776.1:p.His396Arg | |
| NM_000785.4:c.1187A>G MANE Select | NP_000776.1:p.His396Arg |