Linked Data
dbSNP Id:
rs1003503257
gnomAD v2:
15-48705021-G-T
gnomAD v3:
15-48412824-G-T
gnomAD v4:
15-48412824-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412824G>T , CM000677.2:g.48412824G>T | GRCh38 |
| NC_000015.9:g.48705021G>T , CM000677.1:g.48705021G>T | GRCh37 |
| NC_000015.8:g.46492313G>T | NCBI36 |
| NG_008805.2:g.237965C>A , LRG_778:g.237965C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*860-81C>A | ENSP00000453958.2:n.*860-81C>A | |
| ENST00000674301.2:c.*1565-81C>A | ENSP00000501333.2:n.*1565-81C>A | |
| ENST00000682158.1:n.1433-81C>A | ||
| ENST00000682170.1:n.2233-81C>A | ||
| ENST00000682767.1:n.1349-81C>A | ||
| ENST00000316623.10:c.8052-81C>A MANE Select | ENSP00000325527.5:n.8052-81C>A | |
| ENST00000674301.1:c.3218-81C>A | ENSP00000501333.1:n.3218-81C>A | |
| ENST00000316623.9:c.8052-81C>A | ENSP00000325527.5:n.8052-81C>A | |
| ENST00000559133.5:c.3421-81C>A | ||
| ENST00000561429.1:n.307-81C>A | ||
| NM_000138.4:c.8052-81C>A , LRG_778t1:c.8052-81C>A | NP_000129.3:n.8052-81C>A | |
| NM_000138.5:c.8052-81C>A MANE Select | NP_000129.3:n.8052-81C>A |