Linked Data
dbSNP Id:
rs557502083
gnomAD v2:
15-48741221-G-A
gnomAD v3:
15-48449024-G-A
gnomAD v4:
15-48449024-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48449024G>A , CM000677.2:g.48449024G>A | GRCh38 |
| NC_000015.9:g.48741221G>A , CM000677.1:g.48741221G>A | GRCh37 |
| NC_000015.8:g.46528513G>A | NCBI36 |
| NG_008805.2:g.201765C>T , LRG_778:g.201765C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5546-131C>T | ENSP00000453958.2:n.5546-131C>T | |
| ENST00000674301.2:c.5546-131C>T | ENSP00000501333.2:n.5546-131C>T | |
| ENST00000684448.1:n.4220-131C>T | ||
| ENST00000316623.10:c.5546-131C>T MANE Select | ENSP00000325527.5:n.5546-131C>T | |
| ENST00000674301.1:c.545-131C>T | ENSP00000501333.1:n.545-131C>T | |
| ENST00000316623.9:c.5546-131C>T | ENSP00000325527.5:n.5546-131C>T | |
| ENST00000537463.6:c.*1309-131C>T | ENSP00000440294.2:n.*1309-131C>T | |
| ENST00000559133.5:c.853-131C>T | ||
| NM_000138.4:c.5546-131C>T , LRG_778t1:c.5546-131C>T | NP_000129.3:n.5546-131C>T | |
| NM_000138.5:c.5546-131C>T MANE Select | NP_000129.3:n.5546-131C>T |