Linked Data
ClinVar Variation Id:
208628
dbSNP Id:
rs1057518739
gnomAD v4:
13-23806053-A-C
PubMed:
PMID:27799064
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23806053A>C , CM000675.2:g.23806053A>C | GRCh38 |
| NC_000013.10:g.24380192A>C , CM000675.1:g.24380192A>C | GRCh37 |
| NC_000013.9:g.23278192A>C | NCBI36 |
| NG_052977.1:g.88396T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382172.4:c.1745T>G MANE Select | ENSP00000371607.3:p.Leu582Arg | |
| ENST00000382172.3:c.1745T>G | ENSP00000371607.3:p.Leu582Arg | |
| NM_005932.3:c.1745T>G | NP_005923.2:p.Leu582Arg | |
| XM_011535097.1:c.1559T>G | XP_011533399.1:p.Leu520Arg | |
| XM_011535098.1:c.1745T>G | XP_011533400.1:p.Leu582Arg | |
| XM_011535097.2:c.1559T>G | XP_011533399.1:p.Leu520Arg | |
| XM_011535098.3:c.1745T>G | XP_011533400.1:p.Leu582Arg | |
| NM_005932.4:c.1745T>G MANE Select | NP_005923.3:p.Leu582Arg |