Linked Data
ClinVar Variation Id:
11931
dbSNP Id:
rs104895295
gnomAD v2:
12-110012686-A-C
gnomAD v3:
12-109574881-A-C
gnomAD v4:
12-109574881-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109574881A>C , CM000674.2:g.109574881A>C | GRCh38 |
| NC_000012.11:g.110012686A>C , CM000674.1:g.110012686A>C | GRCh37 |
| NC_000012.10:g.108497069A>C | NCBI36 |
| NG_007096.1:g.3617T>G | |
| NG_007702.1:g.6187A>C , LRG_156:g.6187A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.-92+1008A>C | ENSP00000439134.1:n.-92+1008A>C | |
| ENST00000546277.6:c.59A>C | ENSP00000438153.2:p.His20Pro | |
| ENST00000636529.2:n.59A>C | ||
| ENST00000697195.1:c.59A>C | ENSP00000513181.1:p.His20Pro | |
| ENST00000697196.1:c.59A>C | ENSP00000513182.1:p.His20Pro | |
| ENST00000228510.8:c.59A>C MANE Select | ENSP00000228510.3:p.His20Pro | |
| ENST00000636529.1:c.45A>C | ||
| ENST00000636996.1:c.52A>C | ||
| ENST00000639206.1:c.59A>C | ENSP00000492778.1:p.His20Pro | |
| ENST00000228510.7:c.59A>C | ENSP00000228510.3:p.His20Pro | |
| ENST00000392727.7:c.59A>C | ENSP00000376487.3:p.His20Pro | |
| ENST00000447878.6:c.59A>C | ENSP00000415555.2:p.His20Pro | |
| ENST00000535044.1:n.304A>C | ||
| ENST00000537237.5:c.59A>C | ENSP00000445382.1:p.His20Pro | |
| ENST00000539335.5:c.59A>C | ENSP00000440379.1:p.His20Pro | |
| ENST00000539575.4:c.59A>C | ENSP00000443551.2:p.His20Pro | |
| ENST00000539696.5:c.-92+1008A>C | ENSP00000439134.1:n.-92+1008A>C | |
| ENST00000545774.5:c.59A>C | ENSP00000443978.1:p.His20Pro | |
| ENST00000546277.5:c.59A>C | ENSP00000438153.1:p.His20Pro | |
| ENST00000625889.2:c.59A>C | ENSP00000486846.1:p.His20Pro | |
| ENST00000629016.2:c.59A>C | ENSP00000486804.1:p.His20Pro | |
| NM_000431.3:c.59A>C | NP_000422.1:p.His20Pro | |
| NM_001114185.2:c.59A>C | NP_001107657.1:p.His20Pro | |
| NM_001301182.1:c.59A>C | NP_001288111.1:p.His20Pro | |
| XM_011538372.1:c.59A>C | XP_011536674.1:p.His20Pro | |
| XM_017019313.2:c.59A>C | XP_016874802.1:p.His20Pro | |
| XM_017019314.1:c.59A>C | XP_016874803.1:p.His20Pro | |
| XM_024448982.1:c.59A>C | XP_024304750.1:p.His20Pro | |
| NM_000431.4:c.59A>C MANE Select | NP_000422.1:p.His20Pro | |
| NM_001114185.3:c.59A>C | NP_001107657.1:p.His20Pro | |
| NM_001301182.2:c.59A>C | NP_001288111.1:p.His20Pro |