Linked Data
ClinVar Variation Id:
316338
ClinVar RCV Id:
RCV000281194
RCV000285339
RCV000309827
RCV000336286
RCV000340264
RCV000375598
RCV000390296
RCV002262990
dbSNP Id:
rs143446014
gnomAD v2:
15-48701889-G-C
gnomAD v3:
15-48409692-G-C
gnomAD v4:
15-48409692-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48409692G>C , CM000677.2:g.48409692G>C | GRCh38 |
| NC_000015.9:g.48701889G>C , CM000677.1:g.48701889G>C | GRCh37 |
| NC_000015.8:g.46489181G>C | NCBI36 |
| NG_008805.2:g.241097C>G , LRG_778:g.241097C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.4095C>G | ||
| ENST00000682767.1:n.3211C>G | ||
| ENST00000316623.10:c.*1298C>G MANE Select | ENSP00000325527.5:n.*1298C>G | |
| ENST00000316623.9:c.*1298C>G | ENSP00000325527.5:n.*1298C>G | |
| NM_000138.4:c.*1298C>G , LRG_778t1:c.*1298C>G | NP_000129.3:n.*1298C>G | |
| NM_000138.5:c.*1298C>G MANE Select | NP_000129.3:n.*1298C>G |