Linked Data
dbSNP Id:
rs777037092
ExAC:
15:48779638 C / A
gnomAD v2:
15-48779638-C-A
gnomAD v4:
15-48487441-C-A
MyVariant Identifiers:
chr15:g.48779638C>A (hg19)
chr15:g.48779638_48779639delinsAA (hg19)
chr15:g.48487441C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48487441C>A , CM000677.2:g.48487441C>A | GRCh38 |
| NC_000015.9:g.48779638C>A , CM000677.1:g.48779638C>A | GRCh37 |
| NC_000015.8:g.46566930C>A | NCBI36 |
| NG_008805.2:g.163348G>T , LRG_778:g.163348G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3338-4G>T | ENSP00000453958.2:n.3338-4G>T | |
| ENST00000674301.2:c.3338-4G>T | ENSP00000501333.2:n.3338-4G>T | |
| ENST00000684448.1:n.2012-4G>T | ||
| ENST00000316623.10:c.3338-4G>T MANE Select | ENSP00000325527.5:n.3338-4G>T | |
| ENST00000316623.9:c.3338-4G>T | ENSP00000325527.5:n.3338-4G>T | |
| ENST00000537463.6:c.637-12791G>T | ENSP00000440294.2:n.637-12791G>T | |
| NM_000138.4:c.3338-4G>T , LRG_778t1:c.3338-4G>T | NP_000129.3:n.3338-4G>T | |
| NM_000138.5:c.3338-4G>T MANE Select | NP_000129.3:n.3338-4G>T |