Linked Data
ClinVar Variation Id:
5202
ClinVar RCV Id:
RCV000005512
dbSNP Id:
rs267606657
gnomAD v4:
5-14741837-A-C
PubMed:
PMID:20358596
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14741837A>C , CM000667.2:g.14741837A>C | GRCh38 |
| NC_000005.9:g.14741946A>C , CM000667.1:g.14741946A>C | GRCh37 |
| NC_000005.8:g.14794946A>C | NCBI36 |
| NG_008273.1:g.134942T>G | |
| NG_008273.2:g.134949T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284268.8:c.1001T>G MANE Select | ENSP00000284268.6:p.Leu334Arg | |
| ENST00000284268.6:c.1001T>G | ENSP00000284268.6:p.Leu334Arg | |
| ENST00000503939.5:n.513T>G | ||
| ENST00000515517.1:n.235T>G | ||
| NM_054027.4:c.1001T>G | NP_473368.1:p.Leu334Arg | |
| XM_011514067.1:c.1001T>G | XP_011512369.1:p.Leu334Arg | |
| NM_054027.5:c.1001T>G | NP_473368.1:p.Leu334Arg | |
| XM_017009644.2:c.917T>G | XP_016865133.1:p.Leu306Arg | |
| NM_054027.6:c.1001T>G MANE Select | NP_473368.1:p.Leu334Arg |