Linked Data
dbSNP Id:
rs559172589
gnomAD v2:
15-48720761-C-G
gnomAD v3:
15-48428564-C-G
gnomAD v4:
15-48428564-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428564C>G , CM000677.2:g.48428564C>G | GRCh38 |
| NC_000015.9:g.48720761C>G , CM000677.1:g.48720761C>G | GRCh37 |
| NC_000015.8:g.46508053C>G | NCBI36 |
| NG_008805.2:g.222225G>C , LRG_778:g.222225G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6872-93G>C | ENSP00000453958.2:n.6872-93G>C | |
| ENST00000674301.2:c.*323-93G>C | ENSP00000501333.2:n.*323-93G>C | |
| ENST00000682170.1:n.481-93G>C | ||
| ENST00000682767.1:n.14G>C | ||
| ENST00000316623.10:c.6872-93G>C MANE Select | ENSP00000325527.5:n.6872-93G>C | |
| ENST00000674301.1:c.1976-93G>C | ENSP00000501333.1:n.1976-93G>C | |
| ENST00000316623.9:c.6872-93G>C | ENSP00000325527.5:n.6872-93G>C | |
| ENST00000559133.5:c.2179-93G>C | ||
| ENST00000560720.1:n.159-93G>C | ||
| NM_000138.4:c.6872-93G>C , LRG_778t1:c.6872-93G>C | NP_000129.3:n.6872-93G>C | |
| NM_000138.5:c.6872-93G>C MANE Select | NP_000129.3:n.6872-93G>C |