Linked Data
dbSNP Id:
rs2073444820
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969516T>C , CM000685.2:g.154969516T>C | GRCh38 |
| NC_000023.10:g.154197791T>C , CM000685.1:g.154197791T>C | GRCh37 |
| NC_000023.9:g.153850985T>C | NCBI36 |
| NG_011403.1:g.58208A>G | |
| NG_011403.2:g.58208A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.824A>G MANE Select | ENSP00000353393.4:p.His275Arg | |
| ENST00000647125.1:c.*700A>G | ENSP00000496062.1:n.*700A>G | |
| ENST00000360256.8:c.824A>G | ENSP00000353393.4:p.His275Arg | |
| NM_000132.3:c.824A>G | NP_000123.1:p.His275Arg | |
| XM_011531126.1:c.719A>G | XP_011529428.1:p.His240Arg | |
| NM_000132.4:c.824A>G MANE Select | NP_000123.1:p.His275Arg |