Linked Data
ClinVar Variation Id:
97599
dbSNP Id:
rs104895329
ExAC:
12:110023890 C / T
gnomAD v2:
12-110023890-C-T
gnomAD v3:
12-109586085-C-T
gnomAD v4:
12-109586085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109586085C>T , CM000674.2:g.109586085C>T | GRCh38 |
| NC_000012.11:g.110023890C>T , CM000674.1:g.110023890C>T | GRCh37 |
| NC_000012.10:g.108508273C>T | NCBI36 |
| NG_007702.1:g.17391C>T , LRG_156:g.17391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.-91-4761C>T | ENSP00000439134.1:n.-91-4761C>T | |
| ENST00000546277.6:c.591C>T | ENSP00000438153.2:p.His197= | |
| ENST00000636529.2:n.142C>T | ||
| ENST00000697195.1:c.*355C>T | ENSP00000513181.1:n.*355C>T | |
| ENST00000697196.1:c.591C>T | ENSP00000513182.1:p.His197= | |
| ENST00000228510.8:c.591C>T MANE Select | ENSP00000228510.3:p.His197= | |
| ENST00000636529.1:c.128C>T | ||
| ENST00000636996.1:c.439C>T | ||
| ENST00000228510.7:c.591C>T | ENSP00000228510.3:p.His197= | |
| ENST00000392727.7:c.435C>T | ENSP00000376487.3:p.His145= | |
| ENST00000447878.6:c.*38C>T | ENSP00000415555.2:n.*38C>T | |
| ENST00000535044.1:n.535C>T | ||
| ENST00000537237.5:c.*355C>T | ENSP00000445382.1:n.*355C>T | |
| ENST00000539575.4:c.591C>T | ENSP00000443551.2:p.His197= | |
| ENST00000539696.5:c.-91-4761C>T | ENSP00000439134.1:n.-91-4761C>T | |
| ENST00000545516.1:n.136C>T | ||
| ENST00000545774.5:c.*38C>T | ENSP00000443978.1:n.*38C>T | |
| ENST00000546277.5:c.591C>T | ENSP00000438153.1:p.His197= | |
| ENST00000625889.2:c.435C>T | ENSP00000486846.1:p.His145= | |
| ENST00000629016.2:c.*38C>T | ENSP00000486804.1:n.*38C>T | |
| NM_000431.3:c.591C>T | NP_000422.1:p.His197= | |
| NM_001114185.2:c.591C>T | NP_001107657.1:p.His197= | |
| NM_001301182.1:c.435C>T | NP_001288111.1:p.His145= | |
| XM_011538372.1:c.591C>T | XP_011536674.1:p.His197= | |
| XM_017019313.2:c.435C>T | XP_016874802.1:p.His145= | |
| XM_017019314.1:c.591C>T | XP_016874803.1:p.His197= | |
| XM_024448982.1:c.591C>T | XP_024304750.1:p.His197= | |
| NM_000431.4:c.591C>T MANE Select | NP_000422.1:p.His197= | |
| NM_001114185.3:c.591C>T | NP_001107657.1:p.His197= | |
| NM_001301182.2:c.435C>T | NP_001288111.1:p.His145= |