UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
39593
ClinVar RCV Id:
RCV002251941
dbSNP Id:
rs397515402
PubMed:
PMID:23086397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135765706G>A , CM000671.2:g.135765706G>A | GRCh38 |
| NC_000009.11:g.138657552G>A , CM000671.1:g.138657552G>A | GRCh37 |
| NC_000009.10:g.137797373G>A | NCBI36 |
| NG_033070.1:g.68522G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371757.7:c.1283G>A MANE Select | ENSP00000360822.2:p.Arg428Gln | |
| ENST00000636995.1:n.10G>A | ||
| ENST00000637798.1:n.22G>A | ||
| ENST00000674572.1:c.1124G>A | ENSP00000501742.1:p.Arg375Gln | |
| ENST00000675090.1:c.1031G>A | ENSP00000501833.1:p.Arg344Gln | |
| ENST00000675399.1:c.1031G>A | ENSP00000501932.1:p.Arg344Gln | |
| ENST00000676421.1:c.1040G>A | ENSP00000502322.1:p.Arg347Gln | |
| ENST00000263604.5:c.1184G>A | ENSP00000263604.4:p.Arg395Gln | |
| ENST00000371757.6:c.1283G>A | ENSP00000360822.2:p.Arg428Gln | |
| ENST00000460750.5:c.*893G>A | ENSP00000418777.1:n.*893G>A | |
| ENST00000486577.6:c.1166G>A | ENSP00000417578.3:p.Arg389Gln | |
| ENST00000487664.5:c.1283G>A | ENSP00000417851.2:p.Arg428Gln | |
| ENST00000488444.6:c.1226G>A | ENSP00000419007.3:p.Arg409Gln | |
| ENST00000490355.6:c.1226G>A | ENSP00000418003.3:p.Arg409Gln | |
| ENST00000490363.3:n.1102G>A | ||
| ENST00000491806.6:c.1226G>A | ENSP00000419086.3:p.Arg409Gln | |
| ENST00000628528.2:c.1148G>A | ENSP00000486374.1:p.Arg383Gln | |
| ENST00000630792.2:c.1124G>A | ENSP00000486486.1:p.Arg375Gln | |
| ENST00000631073.2:c.1226G>A | ENSP00000486130.1:p.Arg409Gln | |
| NM_001272003.1:c.1148G>A | NP_001258932.1:p.Arg383Gln | |
| NM_020822.2:c.1283G>A | NP_065873.2:p.Arg428Gln | |
| XM_011518877.1:c.1418G>A | XP_011517179.1:p.Arg473Gln | |
| XM_011518878.1:c.1427G>A | XP_011517180.1:p.Arg476Gln | |
| XM_011518879.1:c.1418G>A | XP_011517181.1:p.Arg473Gln | |
| XM_011518880.1:c.1184G>A | XP_011517182.1:p.Arg395Gln | |
| XM_011518881.1:c.773G>A | XP_011517183.1:p.Arg258Gln | |
| XM_011518877.3:c.1418G>A | XP_011517179.1:p.Arg473Gln | |
| XM_011518878.3:c.1427G>A | XP_011517180.1:p.Arg476Gln | |
| XM_011518879.3:c.1418G>A | XP_011517181.1:p.Arg473Gln | |
| XM_011518881.3:c.773G>A | XP_011517183.1:p.Arg258Gln | |
| XM_017014931.1:c.1217G>A | XP_016870420.1:p.Arg406Gln | |
| XM_017014932.1:c.1040G>A | XP_016870421.1:p.Arg347Gln | |
| XM_017014933.1:c.773G>A | XP_016870422.1:p.Arg258Gln | |
| XM_024447617.1:c.773G>A | XP_024303385.1:p.Arg258Gln | |
| XM_024447618.1:c.773G>A | XP_024303386.1:p.Arg258Gln | |
| NM_020822.3:c.1283G>A MANE Select | NP_065873.2:p.Arg428Gln | |
| NM_001272003.2:c.1148G>A | NP_001258932.1:p.Arg383Gln |