Linked Data
ClinVar Variation Id:
16260
ClinVar RCV Id:
RCV000017648
dbSNP Id:
rs121909650
PubMed:
PMID:10835628
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180616464C>G , CM000667.2:g.180616464C>G | GRCh38 |
| NC_000005.9:g.180043464C>G , CM000667.1:g.180043464C>G | GRCh37 |
| NC_000005.8:g.179976070C>G | NCBI36 |
| NG_011536.1:g.38161G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3122G>C MANE Select | ENSP00000261937.6:p.Arg1041Pro | |
| ENST00000261937.10:c.3122G>C | ENSP00000261937.6:p.Arg1041Pro | |
| ENST00000393347.7:c.3122G>C | ENSP00000377016.3:p.Arg1041Pro | |
| ENST00000502649.5:c.3122G>C | ENSP00000426057.1:p.Arg1041Pro | |
| ENST00000507059.5:n.2515G>C | ||
| ENST00000512795.1:c.236G>C | ENSP00000421535.1:p.Arg79Pro | |
| ENST00000514810.1:n.489G>C | ||
| ENST00000619105.4:c.*2065G>C | ENSP00000481134.1:n.*2065G>C | |
| NM_002020.4:c.3122G>C | NP_002011.2:p.Arg1041Pro | |
| NM_182925.4:c.3122G>C | NP_891555.2:p.Arg1041Pro | |
| XM_011534477.1:c.3371G>C | XP_011532779.1:p.Arg1124Pro | |
| XM_011534478.1:c.3353G>C | XP_011532780.1:p.Arg1118Pro | |
| XM_011534479.1:c.3371G>C | XP_011532781.1:p.Arg1124Pro | |
| XM_011534480.1:c.3371G>C | XP_011532782.1:p.Arg1124Pro | |
| XM_011534481.1:c.3371G>C | XP_011532783.1:p.Arg1124Pro | |
| XM_011534482.1:c.3140G>C | XP_011532784.1:p.Arg1047Pro | |
| XM_011534483.1:c.3062G>C | XP_011532785.1:p.Arg1021Pro | |
| XM_011534484.1:c.2663G>C | XP_011532786.1:p.Arg888Pro | |
| XR_941095.1:n.3383G>C | ||
| NM_001354989.1:c.3122G>C | NP_001341918.1:p.Arg1041Pro | |
| XM_011534478.3:c.3353G>C | XP_011532780.1:p.Arg1118Pro | |
| XM_011534484.2:c.2663G>C | XP_011532786.1:p.Arg888Pro | |
| XM_017009263.1:c.3353G>C | XP_016864752.1:p.Arg1118Pro | |
| XM_017009264.2:c.3353G>C | XP_016864753.1:p.Arg1118Pro | |
| XM_017009265.1:c.3353G>C | XP_016864754.1:p.Arg1118Pro | |
| XM_017009266.1:c.3353G>C | XP_016864755.1:p.Arg1118Pro | |
| XM_017009267.2:c.3353G>C | XP_016864756.1:p.Arg1118Pro | |
| XM_017009268.1:c.3044G>C | XP_016864757.1:p.Arg1015Pro | |
| XR_001742050.2:n.3587G>C | ||
| NM_182925.5:c.3122G>C MANE Select | NP_891555.2:p.Arg1041Pro | |
| NM_001354989.2:c.3122G>C | NP_001341918.1:p.Arg1041Pro | |
| NM_002020.5:c.3122G>C | NP_002011.2:p.Arg1041Pro |