Linked Data
ClinVar Variation Id:
1539914
ClinVar RCV Id:
RCV002177001
dbSNP Id:
rs1295510907
gnomAD v2:
12-13906630-C-T
gnomAD v3:
12-13753696-C-T
gnomAD v4:
12-13753696-C-T
COSMIC:
COSM4978736
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13753696C>T , CM000674.2:g.13753696C>T | GRCh38 |
| NC_000012.11:g.13906630C>T , CM000674.1:g.13906630C>T | GRCh37 |
| NC_000012.10:g.13797897C>T | NCBI36 |
| NG_031854.1:g.231393G>A | |
| NG_031854.2:g.233317G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.631G>A MANE Select | ENSP00000477455.1:p.Asp211Asn | |
| ENST00000630791.2:c.631G>A | ENSP00000486677.2:p.Asp211Asn | |
| ENST00000609686.3:c.631G>A | ENSP00000477455.1:p.Asp211Asn | |
| NM_000834.3:c.631G>A | NP_000825.2:p.Asp211Asn | |
| XM_011520628.1:c.631G>A | XP_011518930.1:p.Asp211Asn | |
| XM_011520629.1:c.631G>A | XP_011518931.1:p.Asp211Asn | |
| XM_011520630.1:c.631G>A | XP_011518932.1:p.Asp211Asn | |
| NM_000834.4:c.631G>A | NP_000825.2:p.Asp211Asn | |
| XM_011520628.2:c.631G>A | XP_011518930.1:p.Asp211Asn | |
| XM_011520629.2:c.631G>A | XP_011518931.1:p.Asp211Asn | |
| XM_017019219.2:c.631G>A | XP_016874708.1:p.Asp211Asn | |
| NM_000834.5:c.631G>A MANE Select | NP_000825.2:p.Asp211Asn |