Linked Data
ClinVar Variation Id:
30614
dbSNP Id:
rs387906952
gnomAD v2:
14-88411937-C-T
gnomAD v3:
14-87945593-C-T
gnomAD v4:
14-87945593-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87945593C>T , CM000676.2:g.87945593C>T | GRCh38 |
| NC_000014.8:g.88411937C>T , CM000676.1:g.88411937C>T | GRCh37 |
| NC_000014.7:g.87481690C>T | NCBI36 |
| NG_011853.2:g.52971G>A | |
| NG_011853.3:g.52971G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.1630G>A MANE Select | ENSP00000261304.2:p.Asp544Asn | |
| ENST00000261304.6:c.1630G>A | ENSP00000261304.2:p.Asp544Asn | |
| ENST00000393568.8:c.1561G>A | ENSP00000377198.4:p.Asp521Asn | |
| ENST00000393569.6:c.1552G>A | ENSP00000377199.2:p.Asp518Asn | |
| ENST00000544807.6:c.1462G>A | ENSP00000437513.2:p.Asp488Asn | |
| ENST00000555000.5:c.997G>A | ENSP00000450472.1:p.Asp333Asn | |
| ENST00000555179.1:c.206+2135G>A | ||
| ENST00000557316.5:c.*1028G>A | ENSP00000452314.1:n.*1028G>A | |
| NM_000153.3:c.1630G>A | NP_000144.2:p.Asp544Asn | |
| NM_001201401.1:c.1561G>A | NP_001188330.1:p.Asp521Asn | |
| NM_001201402.1:c.1552G>A | NP_001188331.1:p.Asp518Asn | |
| XM_011536618.1:c.1462G>A | XP_011534920.1:p.Asp488Asn | |
| XM_011536618.2:c.1462G>A | XP_011534920.1:p.Asp488Asn | |
| NM_000153.4:c.1630G>A MANE Select | NP_000144.2:p.Asp544Asn | |
| NM_001201401.2:c.1561G>A | NP_001188330.1:p.Asp521Asn | |
| NM_001201402.2:c.1552G>A | NP_001188331.1:p.Asp518Asn |