Linked Data
dbSNP Id:
rs753145685
ExAC:
15:48707720 G / T
gnomAD v2:
15-48707720-G-T
gnomAD v4:
15-48415523-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415523G>T , CM000677.2:g.48415523G>T | GRCh38 |
| NC_000015.9:g.48707720G>T , CM000677.1:g.48707720G>T | GRCh37 |
| NC_000015.8:g.46495012G>T | NCBI36 |
| NG_008805.2:g.235266C>A , LRG_778:g.235266C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*859+13C>A | ENSP00000453958.2:n.*859+13C>A | |
| ENST00000674301.2:c.*1564+13C>A | ENSP00000501333.2:n.*1564+13C>A | |
| ENST00000682158.1:n.1432+13C>A | ||
| ENST00000682170.1:n.2232+13C>A | ||
| ENST00000682767.1:n.1348+13C>A | ||
| ENST00000316623.10:c.8051+13C>A MANE Select | ENSP00000325527.5:n.8051+13C>A | |
| ENST00000674301.1:c.3217+13C>A | ENSP00000501333.1:n.3217+13C>A | |
| ENST00000316623.9:c.8051+13C>A | ENSP00000325527.5:n.8051+13C>A | |
| ENST00000559133.5:c.3420+13C>A | ||
| ENST00000561429.1:n.306+13C>A | ||
| NM_000138.4:c.8051+13C>A , LRG_778t1:c.8051+13C>A | NP_000129.3:n.8051+13C>A | |
| NM_000138.5:c.8051+13C>A MANE Select | NP_000129.3:n.8051+13C>A |