Linked Data
dbSNP Id:
rs751949161
ExAC:
15:48707702 T / A
gnomAD v2:
15-48707702-T-A
gnomAD v4:
15-48415505-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415505T>A , CM000677.2:g.48415505T>A | GRCh38 |
| NC_000015.9:g.48707702T>A , CM000677.1:g.48707702T>A | GRCh37 |
| NC_000015.8:g.46494994T>A | NCBI36 |
| NG_008805.2:g.235284A>T , LRG_778:g.235284A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*859+31A>T | ENSP00000453958.2:n.*859+31A>T | |
| ENST00000674301.2:c.*1564+31A>T | ENSP00000501333.2:n.*1564+31A>T | |
| ENST00000682158.1:n.1432+31A>T | ||
| ENST00000682170.1:n.2232+31A>T | ||
| ENST00000682767.1:n.1348+31A>T | ||
| ENST00000316623.10:c.8051+31A>T MANE Select | ENSP00000325527.5:n.8051+31A>T | |
| ENST00000674301.1:c.3217+31A>T | ENSP00000501333.1:n.3217+31A>T | |
| ENST00000316623.9:c.8051+31A>T | ENSP00000325527.5:n.8051+31A>T | |
| ENST00000559133.5:c.3420+31A>T | ||
| ENST00000561429.1:n.306+31A>T | ||
| NM_000138.4:c.8051+31A>T , LRG_778t1:c.8051+31A>T | NP_000129.3:n.8051+31A>T | |
| NM_000138.5:c.8051+31A>T MANE Select | NP_000129.3:n.8051+31A>T |