Linked Data
ClinVar Variation Id:
13747
ClinVar RCV Id:
RCV000014754
dbSNP Id:
rs121434600
PubMed:
PMID:8703170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46902768T>G , CM000665.2:g.46902768T>G | GRCh38 |
| NC_000003.11:g.46944258T>G , CM000665.1:g.46944258T>G | GRCh37 |
| NC_000003.10:g.46919262T>G | NCBI36 |
| NG_008864.1:g.30023T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449590.6:c.1373T>G MANE Select | ENSP00000402723.1:p.Ile458Arg | |
| ENST00000313049.9:c.1373T>G | ENSP00000321999.4:p.Ile458Arg | |
| ENST00000418619.5:c.1373T>G | ENSP00000411424.1:p.Ile458Arg | |
| ENST00000422115.2:c.89T>G | ENSP00000396176.1:p.Ile30Arg | |
| ENST00000427125.6:c.1373T>G | ENSP00000400977.2:p.Ile458Arg | |
| ENST00000428220.1:c.*310T>G | ENSP00000389811.1:n.*310T>G | |
| ENST00000430002.6:c.1373T>G | ENSP00000413774.2:p.Ile458Arg | |
| ENST00000449590.5:c.1373T>G | ENSP00000402723.1:p.Ile458Arg | |
| NM_000316.2:c.1373T>G | NP_000307.1:p.Ile458Arg | |
| NM_001184744.1:c.1373T>G | NP_001171673.1:p.Ile458Arg | |
| XM_005265344.2:c.1280T>G | XP_005265401.1:p.Ile427Arg | |
| XM_011533967.1:c.1412T>G | XP_011532269.1:p.Ile471Arg | |
| XM_011533968.1:c.1394T>G | XP_011532270.1:p.Ile465Arg | |
| XM_005265344.3:c.1280T>G | XP_005265401.1:p.Ile427Arg | |
| XM_011533967.3:c.1412T>G | XP_011532269.1:p.Ile471Arg | |
| XM_011533968.2:c.1394T>G | XP_011532270.1:p.Ile465Arg | |
| XM_017006932.2:c.1412T>G | XP_016862421.1:p.Ile471Arg | |
| XM_017006933.1:c.1373T>G | XP_016862422.1:p.Ile458Arg | |
| XM_017006934.1:c.1408T>G | XP_016862423.1:p.Tyr470Asp | |
| NM_000316.3:c.1373T>G MANE Select | NP_000307.1:p.Ile458Arg |