Linked Data
ClinVar Variation Id:
39725
dbSNP Id:
rs104895300
ExAC:
12:110019328 C / T
gnomAD v2:
12-110019328-C-T
gnomAD v4:
12-109581523-C-T
PubMed:
PMID:11313769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109581523C>T , CM000674.2:g.109581523C>T | GRCh38 |
| NC_000012.11:g.110019328C>T , CM000674.1:g.110019328C>T | GRCh37 |
| NC_000012.10:g.108503711C>T | NCBI36 |
| NG_007702.1:g.12829C>T , LRG_156:g.12829C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.-92+7650C>T | ENSP00000439134.1:n.-92+7650C>T | |
| ENST00000546277.6:c.500C>T | ENSP00000438153.2:p.Pro167Leu | |
| ENST00000636529.2:n.79-4499C>T | ||
| ENST00000697195.1:c.*264C>T | ENSP00000513181.1:n.*264C>T | |
| ENST00000697196.1:c.500C>T | ENSP00000513182.1:p.Pro167Leu | |
| ENST00000228510.8:c.500C>T MANE Select | ENSP00000228510.3:p.Pro167Leu | |
| ENST00000636529.1:c.65-4499C>T | ||
| ENST00000636996.1:c.348C>T | ||
| ENST00000228510.7:c.500C>T | ENSP00000228510.3:p.Pro167Leu | |
| ENST00000392727.7:c.371+1577C>T | ENSP00000376487.3:n.371+1577C>T | |
| ENST00000447878.6:c.227-4499C>T | ENSP00000415555.2:n.227-4499C>T | |
| ENST00000535044.1:n.472-4499C>T | ||
| ENST00000537237.5:c.*264C>T | ENSP00000445382.1:n.*264C>T | |
| ENST00000539335.5:c.500C>T | ENSP00000440379.1:p.Pro167Leu | |
| ENST00000539575.4:c.500C>T | ENSP00000443551.2:p.Pro167Leu | |
| ENST00000539696.5:c.-92+7650C>T | ENSP00000439134.1:n.-92+7650C>T | |
| ENST00000545516.1:n.45C>T | ||
| ENST00000545774.5:c.227-4499C>T | ENSP00000443978.1:n.227-4499C>T | |
| ENST00000546277.5:c.500C>T | ENSP00000438153.1:p.Pro167Leu | |
| ENST00000625889.2:c.371+1577C>T | ENSP00000486846.1:n.371+1577C>T | |
| ENST00000629016.2:c.227-4499C>T | ENSP00000486804.1:n.227-4499C>T | |
| NM_000431.3:c.500C>T | NP_000422.1:p.Pro167Leu | |
| NM_001114185.2:c.500C>T | NP_001107657.1:p.Pro167Leu | |
| NM_001301182.1:c.371+1577C>T | NP_001288111.1:n.371+1577C>T | |
| XM_011538372.1:c.500C>T | XP_011536674.1:p.Pro167Leu | |
| XM_017019313.2:c.371+1577C>T | XP_016874802.1:n.371+1577C>T | |
| XM_017019314.1:c.500C>T | XP_016874803.1:p.Pro167Leu | |
| XM_024448982.1:c.500C>T | XP_024304750.1:p.Pro167Leu | |
| NM_000431.4:c.500C>T MANE Select | NP_000422.1:p.Pro167Leu | |
| NM_001114185.3:c.500C>T | NP_001107657.1:p.Pro167Leu | |
| NM_001301182.2:c.371+1577C>T | NP_001288111.1:n.371+1577C>T |