Linked Data
ClinVar Variation Id:
11438
ClinVar RCV Id:
RCV000012191
dbSNP Id:
rs104894962
PubMed:
PMID:14681828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137569054A>G , CM000685.2:g.137569054A>G | GRCh38 |
| NC_000023.10:g.136651213A>G , CM000685.1:g.136651213A>G | GRCh37 |
| NC_000023.9:g.136478879A>G | NCBI36 |
| NG_008115.1:g.7868A>G | |
| NG_008115.2:g.7928A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287538.10:c.1213A>G MANE Select | ENSP00000287538.5:p.Lys405Glu | |
| ENST00000287538.9:c.1213A>G | ENSP00000287538.5:p.Lys405Glu | |
| ENST00000370606.3:c.1213A>G | ENSP00000359638.3:p.Lys405Glu | |
| ENST00000478471.1:n.250A>G | ||
| NM_003413.3:c.1213A>G | NP_003404.1:p.Lys405Glu | |
| NM_001330661.1:c.1213A>G | NP_001317590.1:p.Lys405Glu | |
| NM_003413.4:c.1213A>G MANE Select | NP_003404.1:p.Lys405Glu |