Linked Data
ClinVar Variation Id:
316356
ClinVar RCV Id:
RCV000283727
RCV000288804
RCV000308807
RCV000343321
RCV000343747
RCV000349417
RCV000401663
dbSNP Id:
rs886051242
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410722C>G , CM000677.2:g.48410722C>G | GRCh38 |
| NC_000015.9:g.48702919C>G , CM000677.1:g.48702919C>G | GRCh37 |
| NC_000015.8:g.46490211C>G | NCBI36 |
| NG_008805.2:g.240067G>C , LRG_778:g.240067G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.*1692G>C | ENSP00000453958.2:n.*1692G>C | |
| ENST00000682158.1:n.2265G>C | ||
| ENST00000682170.1:n.3065G>C | ||
| ENST00000682767.1:n.2181G>C | ||
| ENST00000316623.10:c.*268G>C MANE Select | ENSP00000325527.5:n.*268G>C | |
| ENST00000316623.9:c.*268G>C | ENSP00000325527.5:n.*268G>C | |
| ENST00000559133.5:c.4253G>C | ||
| NM_000138.4:c.*268G>C , LRG_778t1:c.*268G>C | NP_000129.3:n.*268G>C | |
| NM_000138.5:c.*268G>C MANE Select | NP_000129.3:n.*268G>C |