Linked Data
ClinVar Variation Id:
1241518
ClinVar RCV Id:
RCV001645263
dbSNP Id:
rs11855195
gnomAD v2:
15-48760897-G-A
gnomAD v3:
15-48468700-G-A
gnomAD v4:
15-48468700-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468700G>A , CM000677.2:g.48468700G>A | GRCh38 |
| NC_000015.9:g.48760897G>A , CM000677.1:g.48760897G>A | GRCh37 |
| NC_000015.8:g.46548189G>A | NCBI36 |
| NG_008805.2:g.182089C>T , LRG_778:g.182089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4460-166C>T | ENSP00000453958.2:n.4460-166C>T | |
| ENST00000674301.2:c.4460-166C>T | ENSP00000501333.2:n.4460-166C>T | |
| ENST00000684448.1:n.3134-166C>T | ||
| ENST00000316623.10:c.4460-166C>T MANE Select | ENSP00000325527.5:n.4460-166C>T | |
| ENST00000316623.9:c.4460-166C>T | ENSP00000325527.5:n.4460-166C>T | |
| ENST00000537463.6:c.*223-166C>T | ENSP00000440294.2:n.*223-166C>T | |
| NM_000138.4:c.4460-166C>T , LRG_778t1:c.4460-166C>T | NP_000129.3:n.4460-166C>T | |
| NM_000138.5:c.4460-166C>T MANE Select | NP_000129.3:n.4460-166C>T |