Linked Data
ClinVar Variation Id:
357158
ClinVar RCV Id:
RCV000279923
dbSNP Id:
rs886061514
gnomAD v3:
6-47478054-G-A
gnomAD v4:
6-47478054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47478054G>A , CM000668.2:g.47478054G>A | GRCh38 |
| NC_000006.11:g.47445790G>A , CM000668.1:g.47445790G>A | GRCh37 |
| NC_000006.10:g.47553749G>A | NCBI36 |
| NG_008878.1:g.5266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359314.5:c.-191G>A MANE Select | ENSP00000352264.5:n.-191G>A | |
| NM_012120.2:c.-191G>A | NP_036252.1:n.-191G>A | |
| XM_005248976.1:c.-191G>A | XP_005249033.1:n.-191G>A | |
| XM_005248977.2:c.-191G>A | XP_005249034.1:n.-191G>A | |
| XM_017010641.1:c.-191G>A | XP_016866130.1:n.-191G>A | |
| NM_012120.3:c.-191G>A MANE Select | NP_036252.1:n.-191G>A |