Linked Data
ClinVar Variation Id:
439712
dbSNP Id:
rs772261791
gnomAD v3:
15-48420815-G-C
gnomAD v4:
15-48420815-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48420815G>C , CM000677.2:g.48420815G>C | GRCh38 |
| NC_000015.9:g.48713012G>C , CM000677.1:g.48713012G>C | GRCh37 |
| NC_000015.8:g.46500304G>C | NCBI36 |
| NG_008805.2:g.229974C>G , LRG_778:g.229974C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*508-9C>G | ENSP00000453958.2:n.*508-9C>G | |
| ENST00000674301.2:c.*1213-9C>G | ENSP00000501333.2:n.*1213-9C>G | |
| ENST00000682170.1:n.1881-9C>G | ||
| ENST00000682767.1:n.997-9C>G | ||
| ENST00000316623.10:c.7700-9C>G MANE Select | ENSP00000325527.5:n.7700-9C>G | |
| ENST00000674301.1:c.2866-9C>G | ENSP00000501333.1:n.2866-9C>G | |
| ENST00000316623.9:c.7700-9C>G | ENSP00000325527.5:n.7700-9C>G | |
| ENST00000559133.5:c.3069-9C>G | ||
| NM_000138.4:c.7700-9C>G , LRG_778t1:c.7700-9C>G | NP_000129.3:n.7700-9C>G | |
| NM_000138.5:c.7700-9C>G MANE Select | NP_000129.3:n.7700-9C>G |