Linked Data
ClinVar Variation Id:
307088
dbSNP Id:
rs886048930
gnomAD v2:
12-110011660-G-A
gnomAD v3:
12-109573855-G-A
gnomAD v4:
12-109573855-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109573855G>A , CM000674.2:g.109573855G>A | GRCh38 |
| NC_000012.11:g.110011660G>A , CM000674.1:g.110011660G>A | GRCh37 |
| NC_000012.10:g.108496043G>A | NCBI36 |
| NG_007096.1:g.4643C>T | |
| NG_007702.1:g.5161G>A , LRG_156:g.5161G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539696.6:c.-110G>A (MVK) | ENSP00000439134.1:n.-110G>A | |
| ENST00000546277.6:c.-15+284G>A (MVK) | ENSP00000438153.2:n.-15+284G>A | |
| ENST00000228510.8:c.-33G>A (MVK) MANE Select | ENSP00000228510.3:n.-33G>A | |
| ENST00000228510.7:c.-33G>A (MVK) | ENSP00000228510.3:n.-33G>A | |
| ENST00000392727.7:c.-33G>A (MVK) | ENSP00000376487.3:n.-33G>A | |
| ENST00000447878.6:c.-33G>A (MVK) | ENSP00000415555.2:n.-33G>A | |
| ENST00000535044.1:n.231+284G>A (MVK) | ||
| ENST00000537237.5:c.-33G>A (MVK) | ENSP00000445382.1:n.-33G>A | |
| ENST00000539335.5:c.-6+284G>A (MVK) | ENSP00000440379.1:n.-6+284G>A | |
| ENST00000539696.5:c.-110G>A (MVK) | ENSP00000439134.1:n.-110G>A | |
| ENST00000545712.6:c.-375C>T (MMAB) | ENSP00000445920.1:n.-375C>T | |
| ENST00000545774.5:c.-33G>A (MVK) | ENSP00000443978.1:n.-33G>A | |
| ENST00000546277.5:c.-15+284G>A (MVK) | ENSP00000438153.1:n.-15+284G>A | |
| NM_000431.3:c.-33G>A (MVK) | NP_000422.1:n.-33G>A | |
| NM_001114185.2:c.-24G>A (MVK) | NP_001107657.1:n.-24G>A | |
| NM_001301182.1:c.-33G>A (MVK) | NP_001288111.1:n.-33G>A | |
| XM_011538372.1:c.-15+284G>A (MVK) | XP_011536674.1:n.-15+284G>A | |
| XM_017019313.2:c.-15+284G>A (MVK) | XP_016874802.1:n.-15+284G>A | |
| XM_024448982.1:c.-15+284G>A (MVK) | XP_024304750.1:n.-15+284G>A | |
| NM_000431.4:c.-33G>A (MVK) MANE Select | NP_000422.1:n.-33G>A | |
| NM_001114185.3:c.-24G>A (MVK) | NP_001107657.1:n.-24G>A | |
| NM_001301182.2:c.-33G>A (MVK) | NP_001288111.1:n.-33G>A |