Linked Data
dbSNP Id:
rs1425746023
gnomAD v2:
15-48705012-G-A
gnomAD v3:
15-48412815-G-A
gnomAD v4:
15-48412815-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412815G>A , CM000677.2:g.48412815G>A | GRCh38 |
| NC_000015.9:g.48705012G>A , CM000677.1:g.48705012G>A | GRCh37 |
| NC_000015.8:g.46492304G>A | NCBI36 |
| NG_008805.2:g.237974C>T , LRG_778:g.237974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*860-72C>T | ENSP00000453958.2:n.*860-72C>T | |
| ENST00000674301.2:c.*1565-72C>T | ENSP00000501333.2:n.*1565-72C>T | |
| ENST00000682158.1:n.1433-72C>T | ||
| ENST00000682170.1:n.2233-72C>T | ||
| ENST00000682767.1:n.1349-72C>T | ||
| ENST00000316623.10:c.8052-72C>T MANE Select | ENSP00000325527.5:n.8052-72C>T | |
| ENST00000674301.1:c.3218-72C>T | ENSP00000501333.1:n.3218-72C>T | |
| ENST00000316623.9:c.8052-72C>T | ENSP00000325527.5:n.8052-72C>T | |
| ENST00000559133.5:c.3421-72C>T | ||
| ENST00000561429.1:n.307-72C>T | ||
| NM_000138.4:c.8052-72C>T , LRG_778t1:c.8052-72C>T | NP_000129.3:n.8052-72C>T | |
| NM_000138.5:c.8052-72C>T MANE Select | NP_000129.3:n.8052-72C>T |