Linked Data
dbSNP Id:
rs546179696
gnomAD v2:
15-48720232-G-A
gnomAD v3:
15-48428035-G-A
gnomAD v4:
15-48428035-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428035G>A , CM000677.2:g.48428035G>A | GRCh38 |
| NC_000015.9:g.48720232G>A , CM000677.1:g.48720232G>A | GRCh37 |
| NC_000015.8:g.46507524G>A | NCBI36 |
| NG_008805.2:g.222754C>T , LRG_778:g.222754C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6998-92C>T | ENSP00000453958.2:n.6998-92C>T | |
| ENST00000674301.2:c.*449-92C>T | ENSP00000501333.2:n.*449-92C>T | |
| ENST00000682170.1:n.917C>T | ||
| ENST00000682767.1:n.233-92C>T | ||
| ENST00000316623.10:c.6998-262C>T MANE Select | ENSP00000325527.5:n.6998-262C>T | |
| ENST00000674301.1:c.2102-92C>T | ENSP00000501333.1:n.2102-92C>T | |
| ENST00000316623.9:c.6998-262C>T | ENSP00000325527.5:n.6998-262C>T | |
| ENST00000559133.5:c.2305-92C>T | ||
| ENST00000560720.1:n.595C>T | ||
| NM_000138.4:c.6998-262C>T , LRG_778t1:c.6998-262C>T | NP_000129.3:n.6998-262C>T | |
| NM_000138.5:c.6998-262C>T MANE Select | NP_000129.3:n.6998-262C>T |