Linked Data
ClinVar Variation Id:
29965
ClinVar RCV Id:
RCV000022857
dbSNP Id:
rs387906715
PubMed:
PMID:21108397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004755A>T , CM000685.2:g.25004755A>T | GRCh38 |
| NC_000023.10:g.25022872A>T , CM000685.1:g.25022872A>T | GRCh37 |
| NC_000023.9:g.24932793A>T | NCBI36 |
| NG_008281.1:g.16194T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1604T>A MANE Select | ENSP00000368332.4:p.Leu535Gln | |
| ENST00000379044.4:c.1604T>A | ENSP00000368332.4:p.Leu535Gln | |
| NM_139058.2:c.1604T>A | NP_620689.1:p.Leu535Gln | |
| NM_139058.3:c.1604T>A MANE Select | NP_620689.1:p.Leu535Gln |