Linked Data
ClinVar Variation Id:
196999
dbSNP Id:
rs367905297
ExAC:
14:21853898 G / A
gnomAD v2:
14-21853898-G-A
gnomAD v3:
14-21385739-G-A
gnomAD v4:
14-21385739-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21385739G>A , CM000676.2:g.21385739G>A | GRCh38 |
| NC_000014.8:g.21853898G>A , CM000676.1:g.21853898G>A | GRCh37 |
| NC_000014.7:g.20923738G>A | NCBI36 |
| NG_009932.1:g.3528C>T | |
| NG_021249.1:g.56560C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.6783C>T | ENSP00000406288.3:p.Asp2261= | |
| ENST00000553870.2:c.992C>T | ||
| ENST00000555935.2:c.5320C>T | ||
| ENST00000557364.6:c.7620C>T | ENSP00000451601.1:p.Asp2540= | |
| ENST00000643469.1:c.7620C>T | ENSP00000495070.1:p.Asp2540= | |
| ENST00000645206.1:n.6776C>T | ||
| ENST00000645929.1:c.6783C>T | ENSP00000494402.1:p.Asp2261= | |
| ENST00000646647.2:c.7620C>T MANE Select | ENSP00000495240.1:p.Asp2540= | |
| ENST00000399982.6:c.7620C>T | ENSP00000382863.2:p.Asp2540= | |
| ENST00000430710.7:c.6783C>T | ENSP00000406288.3:p.Asp2261= | |
| ENST00000557364.5:c.7620C>T | ENSP00000451601.1:p.Asp2540= | |
| ENST00000557727.1:n.606C>T | ||
| NM_001170629.1:c.7620C>T | NP_001164100.1:p.Asp2540= | |
| NM_020920.3:c.6783C>T | NP_065971.2:p.Asp2261= | |
| XR_001750627.1:n.621+1026G>A | ||
| NM_001170629.2:c.7620C>T MANE Select | NP_001164100.1:p.Asp2540= | |
| NM_020920.4:c.6783C>T | NP_065971.2:p.Asp2261= |