Linked Data
ClinVar Variation Id:
2085374
ClinVar RCV Id:
RCV003005031
dbSNP Id:
rs764400246
ExAC:
12:124158244 C / T
gnomAD v2:
12-124158244-C-T
gnomAD v4:
12-123673697-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123673697C>T , CM000674.2:g.123673697C>T | GRCh38 |
| NC_000012.11:g.124158244C>T , CM000674.1:g.124158244C>T | GRCh37 |
| NC_000012.10:g.122724197C>T | NCBI36 |
| NG_030442.1:g.7585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.350C>T MANE Select | ENSP00000304941.5:p.Pro117Leu | |
| ENST00000679504.1:c.347C>T | ENSP00000505006.1:p.Pro116Leu | |
| ENST00000680500.1:c.350C>T | ENSP00000506438.1:p.Pro117Leu | |
| ENST00000680574.1:c.350C>T | ENSP00000505356.1:p.Pro117Leu | |
| ENST00000303372.6:c.350C>T | ENSP00000304941.5:p.Pro117Leu | |
| ENST00000426174.6:c.347C>T | ENSP00000395171.2:p.Pro116Leu | |
| ENST00000541523.1:c.*193C>T | ENSP00000437644.1:n.*193C>T | |
| NM_001143850.2:c.347C>T | NP_001137322.1:p.Pro116Leu | |
| NM_024809.4:c.350C>T | NP_079085.2:p.Pro117Leu | |
| XM_005253623.2:c.350C>T | XP_005253680.1:p.Pro117Leu | |
| XM_006719605.2:c.350C>T | XP_006719668.1:p.Pro117Leu | |
| XM_006719605.3:c.350C>T | XP_006719668.1:p.Pro117Leu | |
| XM_017019974.1:c.347C>T | XP_016875463.1:p.Pro116Leu | |
| XM_017019975.1:c.-436C>T | XP_016875464.1:n.-436C>T | |
| NM_024809.5:c.350C>T MANE Select | NP_079085.2:p.Pro117Leu | |
| NM_001143850.3:c.347C>T | NP_001137322.1:p.Pro116Leu |