Linked Data
ClinVar Variation Id:
307083
dbSNP Id:
rs554831769
ExAC:
12:110011294 C / A
gnomAD v2:
12-110011294-C-A
gnomAD v3:
12-109573489-C-A
gnomAD v4:
12-109573489-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109573489C>A , CM000674.2:g.109573489C>A | GRCh38 |
| NC_000012.11:g.110011294C>A , CM000674.1:g.110011294C>A | GRCh37 |
| NC_000012.10:g.108495677C>A | NCBI36 |
| NG_007096.1:g.5009G>T | |
| NG_007702.1:g.4795C>A , LRG_156:g.4795C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546277.6:c.-97C>A (MVK) | ENSP00000438153.2:n.-97C>A | |
| ENST00000545712.7:c.-9G>T (MMAB) MANE Select | ENSP00000445920.1:n.-9G>T | |
| ENST00000420167.6:c.-9G>T (MMAB) | ENSP00000416136.2:n.-9G>T | |
| ENST00000503497.7:c.-9G>T (MMAB) | ENSP00000474881.1:n.-9G>T | |
| ENST00000535044.1:n.149C>A (MVK) | ||
| ENST00000537236.2:c.-9G>T (MMAB) | ENSP00000483818.1:n.-9G>T | |
| ENST00000537496.5:c.-9G>T (MMAB) | ENSP00000444793.1:n.-9G>T | |
| ENST00000539335.5:c.-88C>A (MVK) | ENSP00000440379.1:n.-88C>A | |
| ENST00000540016.5:c.-9G>T (MMAB) | ENSP00000474582.1:n.-9G>T | |
| ENST00000542390.5:n.19G>T (MMAB) | ||
| ENST00000544051.5:c.-9G>T (MMAB) | ENSP00000438079.1:n.-9G>T | |
| ENST00000545712.6:c.-9G>T (MMAB) | ENSP00000445920.1:n.-9G>T | |
| ENST00000546277.5:c.-97C>A (MVK) | ENSP00000438153.1:n.-97C>A | |
| NM_052845.3:c.-9G>T (MMAB) | NP_443077.1:n.-9G>T | |
| NR_038118.1:n.65G>T (MMAB) | ||
| XM_011538372.1:c.-97C>A (MVK) | XP_011536674.1:n.-97C>A | |
| XM_024448961.1:c.-9G>T (MMAB) | XP_024304729.1:n.-9G>T | |
| XM_024448982.1:c.-97C>A (MVK) | XP_024304750.1:n.-97C>A | |
| NM_052845.4:c.-9G>T (MMAB) MANE Select | NP_443077.1:n.-9G>T | |
| NR_038118.2:n.16G>T (MMAB) |