Linked Data
ClinVar Variation Id:
137040
dbSNP Id:
rs140238987
ExAC:
11:1775284 C / T
gnomAD v2:
11-1775284-C-T
gnomAD v3:
11-1754054-C-T
gnomAD v4:
11-1754054-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1754054C>T , CM000673.2:g.1754054C>T | GRCh38 |
| NC_000011.9:g.1775284C>T , CM000673.1:g.1775284C>T | GRCh37 |
| NC_000011.8:g.1731860C>T | NCBI36 |
| NG_008655.1:g.14939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.912G>A MANE Select | ENSP00000236671.2:p.Pro304= | |
| ENST00000367196.4:c.807G>A | ENSP00000356164.4:p.Pro269= | |
| ENST00000427721.3:c.337G>A | ||
| ENST00000429746.2:c.807G>A | ENSP00000402586.2:p.Pro269= | |
| ENST00000433655.6:c.*78G>A | ENSP00000404902.1:n.*78G>A | |
| ENST00000438213.6:c.1029G>A | ENSP00000415036.2:p.Pro343= | |
| ENST00000497544.3:n.528G>A | ||
| ENST00000636397.1:c.912G>A | ENSP00000489910.1:p.Pro304= | |
| ENST00000636571.1:c.891G>A | ENSP00000490770.1:p.Pro297= | |
| ENST00000636615.1:c.912G>A | ENSP00000490014.1:p.Pro304= | |
| ENST00000636843.1:c.906G>A | ENSP00000490897.1:p.Pro302= | |
| ENST00000637158.1:n.510G>A | ||
| ENST00000637381.2:n.3340G>A | ||
| ENST00000637387.1:c.912G>A | ENSP00000490598.1:p.Pro304= | |
| ENST00000637815.2:c.894G>A | ENSP00000490344.1:p.Pro298= | |
| ENST00000637915.1:c.912G>A | ENSP00000490471.1:p.Pro304= | |
| ENST00000637937.1:n.220G>A | ||
| ENST00000678991.1:c.*773G>A | ENSP00000503019.1:n.*773G>A | |
| ENST00000236671.6:c.912G>A | ENSP00000236671.2:p.Pro304= | |
| ENST00000427721.2:c.312G>A | ENSP00000415840.2:p.Pro104= | |
| ENST00000429746.1:c.243G>A | ENSP00000402586.1:p.Pro81= | |
| ENST00000433655.5:c.*78G>A | ENSP00000404902.1:n.*78G>A | |
| ENST00000438213.5:c.867G>A | ENSP00000415036.1:p.Pro289= | |
| ENST00000497544.1:n.528G>A | ||
| NM_001909.4:c.912G>A | NP_001900.1:p.Pro304= | |
| NM_001909.5:c.912G>A MANE Select | NP_001900.1:p.Pro304= |