Linked Data
ClinVar Variation Id:
16263
ClinVar RCV Id:
RCV000017651
dbSNP Id:
rs121909653
PubMed:
PMID:10856194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180616482T>C , CM000667.2:g.180616482T>C | GRCh38 |
| NC_000005.9:g.180043482T>C , CM000667.1:g.180043482T>C | GRCh37 |
| NC_000005.8:g.179976088T>C | NCBI36 |
| NG_011536.1:g.38143A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3104A>G MANE Select | ENSP00000261937.6:p.His1035Arg | |
| ENST00000261937.10:c.3104A>G | ENSP00000261937.6:p.His1035Arg | |
| ENST00000393347.7:c.3104A>G | ENSP00000377016.3:p.His1035Arg | |
| ENST00000502649.5:c.3104A>G | ENSP00000426057.1:p.His1035Arg | |
| ENST00000507059.5:n.2497A>G | ||
| ENST00000512795.1:c.218A>G | ENSP00000421535.1:p.His73Arg | |
| ENST00000514810.1:n.471A>G | ||
| ENST00000619105.4:c.*2047A>G | ENSP00000481134.1:n.*2047A>G | |
| NM_002020.4:c.3104A>G | NP_002011.2:p.His1035Arg | |
| NM_182925.4:c.3104A>G | NP_891555.2:p.His1035Arg | |
| XM_011534477.1:c.3353A>G | XP_011532779.1:p.His1118Arg | |
| XM_011534478.1:c.3335A>G | XP_011532780.1:p.His1112Arg | |
| XM_011534479.1:c.3353A>G | XP_011532781.1:p.His1118Arg | |
| XM_011534480.1:c.3353A>G | XP_011532782.1:p.His1118Arg | |
| XM_011534481.1:c.3353A>G | XP_011532783.1:p.His1118Arg | |
| XM_011534482.1:c.3122A>G | XP_011532784.1:p.His1041Arg | |
| XM_011534483.1:c.3044A>G | XP_011532785.1:p.His1015Arg | |
| XM_011534484.1:c.2645A>G | XP_011532786.1:p.His882Arg | |
| XR_941095.1:n.3365A>G | ||
| NM_001354989.1:c.3104A>G | NP_001341918.1:p.His1035Arg | |
| XM_011534478.3:c.3335A>G | XP_011532780.1:p.His1112Arg | |
| XM_011534484.2:c.2645A>G | XP_011532786.1:p.His882Arg | |
| XM_017009263.1:c.3335A>G | XP_016864752.1:p.His1112Arg | |
| XM_017009264.2:c.3335A>G | XP_016864753.1:p.His1112Arg | |
| XM_017009265.1:c.3335A>G | XP_016864754.1:p.His1112Arg | |
| XM_017009266.1:c.3335A>G | XP_016864755.1:p.His1112Arg | |
| XM_017009267.2:c.3335A>G | XP_016864756.1:p.His1112Arg | |
| XM_017009268.1:c.3026A>G | XP_016864757.1:p.His1009Arg | |
| XR_001742050.2:n.3569A>G | ||
| NM_182925.5:c.3104A>G MANE Select | NP_891555.2:p.His1035Arg | |
| NM_001354989.2:c.3104A>G | NP_001341918.1:p.His1035Arg | |
| NM_002020.5:c.3104A>G | NP_002011.2:p.His1035Arg |