Linked Data
dbSNP Id:
rs1407441457
gnomAD v2:
15-48703685-T-G
gnomAD v3:
15-48411488-T-G
gnomAD v4:
15-48411488-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411488T>G , CM000677.2:g.48411488T>G | GRCh38 |
| NC_000015.9:g.48703685T>G , CM000677.1:g.48703685T>G | GRCh37 |
| NC_000015.8:g.46490977T>G | NCBI36 |
| NG_008805.2:g.239301A>C , LRG_778:g.239301A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1035-109A>C | ENSP00000453958.2:n.*1035-109A>C | |
| ENST00000674301.2:c.*1740-109A>C | ENSP00000501333.2:n.*1740-109A>C | |
| ENST00000682158.1:n.1608-109A>C | ||
| ENST00000682170.1:n.2408-109A>C | ||
| ENST00000682767.1:n.1524-109A>C | ||
| ENST00000316623.10:c.8227-109A>C MANE Select | ENSP00000325527.5:n.8227-109A>C | |
| ENST00000674301.1:c.3393-109A>C | ENSP00000501333.1:n.3393-109A>C | |
| ENST00000316623.9:c.8227-109A>C | ENSP00000325527.5:n.8227-109A>C | |
| ENST00000559133.5:c.3596-109A>C | ||
| ENST00000561429.1:n.482-109A>C | ||
| NM_000138.4:c.8227-109A>C , LRG_778t1:c.8227-109A>C | NP_000129.3:n.8227-109A>C | |
| NM_000138.5:c.8227-109A>C MANE Select | NP_000129.3:n.8227-109A>C |