Linked Data
dbSNP Id:
rs1400852717
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622687T>C , CM000670.2:g.10622687T>C | GRCh38 |
| NC_000008.10:g.10480197T>C , CM000670.1:g.10480197T>C | GRCh37 |
| NC_000008.9:g.10517607T>C | NCBI36 |
| NG_028035.1:g.37421A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.515A>G MANE Select | ENSP00000371923.3:p.His172Arg | |
| ENST00000329335.3:n.765A>G | ||
| ENST00000382483.3:c.515A>G | ENSP00000371923.3:p.His172Arg | |
| NM_178857.5:c.515A>G | NP_849188.4:p.His172Arg | |
| NM_178857.6:c.515A>G MANE Select | NP_849188.4:p.His172Arg |