Linked Data
ClinVar Variation Id:
316347
ClinVar RCV Id:
RCV000262978
RCV000270222
RCV000273589
RCV000313568
RCV000315639
RCV000355355
RCV000370556
dbSNP Id:
rs749224599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410042C>A , CM000677.2:g.48410042C>A | GRCh38 |
| NC_000015.9:g.48702239C>A , CM000677.1:g.48702239C>A | GRCh37 |
| NC_000015.8:g.46489531C>A | NCBI36 |
| NG_008805.2:g.240747G>T , LRG_778:g.240747G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682170.1:n.3745G>T | ||
| ENST00000682767.1:n.2861G>T | ||
| ENST00000316623.10:c.*948G>T MANE Select | ENSP00000325527.5:n.*948G>T | |
| ENST00000316623.9:c.*948G>T | ENSP00000325527.5:n.*948G>T | |
| NM_000138.4:c.*948G>T , LRG_778t1:c.*948G>T | NP_000129.3:n.*948G>T | |
| NM_000138.5:c.*948G>T MANE Select | NP_000129.3:n.*948G>T |