Linked Data
ClinVar Variation Id:
13749
ClinVar RCV Id:
RCV000014756
dbSNP Id:
rs121434603
gnomAD v2:
3-46944817-C-T
gnomAD v4:
3-46903327-C-T
PubMed:
PMID:15525660
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46903327C>T , CM000665.2:g.46903327C>T | GRCh38 |
| NC_000003.11:g.46944817C>T , CM000665.1:g.46944817C>T | GRCh37 |
| NC_000003.10:g.46919821C>T | NCBI36 |
| NG_008864.1:g.30582C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449590.6:c.1453C>T MANE Select | ENSP00000402723.1:p.Arg485Ter | |
| ENST00000313049.9:c.1453C>T | ENSP00000321999.4:p.Arg485Ter | |
| ENST00000418619.5:c.1453C>T | ENSP00000411424.1:p.Arg485Ter | |
| ENST00000422115.2:c.220C>T | ENSP00000396176.1:p.Arg74Ter | |
| ENST00000427125.6:c.1453C>T | ENSP00000400977.2:p.Arg485Ter | |
| ENST00000428220.1:c.*390C>T | ENSP00000389811.1:n.*390C>T | |
| ENST00000430002.6:c.1453C>T | ENSP00000413774.2:p.Arg485Ter | |
| ENST00000449590.5:c.1453C>T | ENSP00000402723.1:p.Arg485Ter | |
| NM_000316.2:c.1453C>T | NP_000307.1:p.Arg485Ter | |
| NM_001184744.1:c.1453C>T | NP_001171673.1:p.Arg485Ter | |
| XM_005265344.2:c.1360C>T | XP_005265401.1:p.Arg454Ter | |
| XM_011533967.1:c.1492C>T | XP_011532269.1:p.Arg498Ter | |
| XM_011533968.1:c.1474C>T | XP_011532270.1:p.Arg492Ter | |
| XM_005265344.3:c.1360C>T | XP_005265401.1:p.Arg454Ter | |
| XM_011533967.3:c.1492C>T | XP_011532269.1:p.Arg498Ter | |
| XM_011533968.2:c.1474C>T | XP_011532270.1:p.Arg492Ter | |
| XM_017006932.2:c.1492C>T | XP_016862421.1:p.Arg498Ter | |
| XM_017006933.1:c.1453C>T | XP_016862422.1:p.Arg485Ter | |
| XM_017006934.1:c.1488C>T | XP_016862423.1:p.Ser496= | |
| NM_000316.3:c.1453C>T MANE Select | NP_000307.1:p.Arg485Ter |