Linked Data
ClinVar Variation Id:
205357
dbSNP Id:
rs763407972
ExAC:
11:1776212 C / T
gnomAD v2:
11-1776212-C-T
gnomAD v3:
11-1754982-C-T
gnomAD v4:
11-1754982-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1754982C>T , CM000673.2:g.1754982C>T | GRCh38 |
| NC_000011.9:g.1776212C>T , CM000673.1:g.1776212C>T | GRCh37 |
| NC_000011.8:g.1732788C>T | NCBI36 |
| NG_008655.1:g.14011G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.751G>A MANE Select | ENSP00000236671.2:p.Asp251Asn | |
| ENST00000367196.4:c.646G>A | ENSP00000356164.4:p.Asp216Asn | |
| ENST00000427721.3:c.176G>A | ||
| ENST00000429746.2:c.646G>A | ENSP00000402586.2:p.Asp216Asn | |
| ENST00000433655.6:c.751G>A | ENSP00000404902.1:p.Asp251Asn | |
| ENST00000438213.6:c.751G>A | ENSP00000415036.2:p.Asp251Asn | |
| ENST00000497544.3:n.367G>A | ||
| ENST00000636397.1:c.751G>A | ENSP00000489910.1:p.Asp251Asn | |
| ENST00000636571.1:c.730G>A | ENSP00000490770.1:p.Asp244Asn | |
| ENST00000636615.1:c.751G>A | ENSP00000490014.1:p.Asp251Asn | |
| ENST00000636843.1:c.745G>A | ENSP00000490897.1:p.Asp249Asn | |
| ENST00000637158.1:n.349G>A | ||
| ENST00000637381.2:n.3179G>A | ||
| ENST00000637387.1:c.751G>A | ENSP00000490598.1:p.Asp251Asn | |
| ENST00000637815.2:c.751G>A | ENSP00000490344.1:p.Asp251Asn | |
| ENST00000637915.1:c.751G>A | ENSP00000490471.1:p.Asp251Asn | |
| ENST00000637937.1:n.59G>A | ||
| ENST00000678991.1:c.*612G>A | ENSP00000503019.1:n.*612G>A | |
| ENST00000236671.6:c.751G>A | ENSP00000236671.2:p.Asp251Asn | |
| ENST00000427721.2:c.151G>A | ENSP00000415840.2:p.Asp51Asn | |
| ENST00000433655.5:c.751G>A | ENSP00000404902.1:p.Asp251Asn | |
| ENST00000438213.5:c.706G>A | ENSP00000415036.1:p.Asp236Asn | |
| ENST00000497544.1:n.367G>A | ||
| NM_001909.4:c.751G>A | NP_001900.1:p.Asp251Asn | |
| NM_001909.5:c.751G>A MANE Select | NP_001900.1:p.Asp251Asn |