Linked Data
ClinVar Variation Id:
205353
dbSNP Id:
rs757712173
ExAC:
11:1785082 G / A
gnomAD v2:
11-1785082-G-A
gnomAD v3:
11-1763852-G-A
gnomAD v4:
11-1763852-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1763852G>A , CM000673.2:g.1763852G>A | GRCh38 |
| NC_000011.9:g.1785082G>A , CM000673.1:g.1785082G>A | GRCh37 |
| NC_000011.8:g.1741658G>A | NCBI36 |
| NG_008655.1:g.5141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.8C>T MANE Select | ENSP00000236671.2:p.Pro3Leu | |
| ENST00000429746.2:c.-38+668C>T | ENSP00000402586.2:n.-38+668C>T | |
| ENST00000433655.6:c.8C>T | ENSP00000404902.1:p.Pro3Leu | |
| ENST00000438213.6:c.8C>T | ENSP00000415036.2:p.Pro3Leu | |
| ENST00000636397.1:c.8C>T | ENSP00000489910.1:p.Pro3Leu | |
| ENST00000636571.1:c.8C>T | ENSP00000490770.1:p.Pro3Leu | |
| ENST00000636615.1:c.8C>T | ENSP00000490014.1:p.Pro3Leu | |
| ENST00000636843.1:c.8C>T | ENSP00000490897.1:p.Pro3Leu | |
| ENST00000637381.2:n.113C>T | ||
| ENST00000637387.1:c.8C>T | ENSP00000490598.1:p.Pro3Leu | |
| ENST00000637815.2:c.8C>T | ENSP00000490344.1:p.Pro3Leu | |
| ENST00000637915.1:c.8C>T | ENSP00000490471.1:p.Pro3Leu | |
| ENST00000678991.1:c.8C>T | ENSP00000503019.1:p.Pro3Leu | |
| ENST00000236671.6:c.8C>T | ENSP00000236671.2:p.Pro3Leu | |
| ENST00000433655.5:c.8C>T | ENSP00000404902.1:p.Pro3Leu | |
| NM_001909.4:c.8C>T | NP_001900.1:p.Pro3Leu | |
| NM_001909.5:c.8C>T MANE Select | NP_001900.1:p.Pro3Leu |