Linked Data
dbSNP Id:
rs1298434791
gnomAD v2:
15-48717487-C-G
gnomAD v3:
15-48425290-C-G
gnomAD v4:
15-48425290-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48425290C>G , CM000677.2:g.48425290C>G | GRCh38 |
| NC_000015.9:g.48717487C>G , CM000677.1:g.48717487C>G | GRCh37 |
| NC_000015.8:g.46504779C>G | NCBI36 |
| NG_008805.2:g.225499G>C , LRG_778:g.225499G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*261+79G>C | ENSP00000453958.2:n.*261+79G>C | |
| ENST00000674301.2:c.*966+79G>C | ENSP00000501333.2:n.*966+79G>C | |
| ENST00000682170.1:n.1634+79G>C | ||
| ENST00000682767.1:n.750+79G>C | ||
| ENST00000316623.10:c.7453+79G>C MANE Select | ENSP00000325527.5:n.7453+79G>C | |
| ENST00000674301.1:c.2619+79G>C | ENSP00000501333.1:n.2619+79G>C | |
| ENST00000316623.9:c.7453+79G>C | ENSP00000325527.5:n.7453+79G>C | |
| ENST00000559133.5:c.2822+79G>C | ||
| NM_000138.4:c.7453+79G>C , LRG_778t1:c.7453+79G>C | NP_000129.3:n.7453+79G>C | |
| NM_000138.5:c.7453+79G>C MANE Select | NP_000129.3:n.7453+79G>C |