Linked Data
ClinVar Variation Id:
1996485
ClinVar RCV Id:
RCV002823749
gnomAD v4:
14-87976366-A-G
MyVariant Identifiers:
chr14:g.88442710A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87976366A>G , CM000676.2:g.87976366A>G | GRCh38 |
| NC_000014.8:g.88442710A>G , CM000676.1:g.88442710A>G | GRCh37 |
| NC_000014.7:g.87512463A>G | NCBI36 |
| NG_011853.2:g.22198T>C | |
| NG_011853.3:g.22198T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.744T>C MANE Select | ENSP00000261304.2:p.Asp248= | |
| ENST00000261304.6:c.744T>C | ENSP00000261304.2:p.Asp248= | |
| ENST00000393568.8:c.675T>C | ENSP00000377198.4:p.Asp225= | |
| ENST00000393569.6:c.666T>C | ENSP00000377199.2:p.Asp222= | |
| ENST00000474294.6:n.734T>C | ||
| ENST00000477716.3:n.499T>C | ||
| ENST00000544807.6:c.576T>C | ENSP00000437513.2:p.Asp192= | |
| ENST00000554916.5:n.623T>C | ||
| ENST00000555000.5:c.111T>C | ENSP00000450472.1:p.Asp37= | |
| ENST00000557316.5:c.*142T>C | ENSP00000452314.1:n.*142T>C | |
| ENST00000622264.4:c.734T>C | ||
| NM_000153.3:c.744T>C | NP_000144.2:p.Asp248= | |
| NM_001201401.1:c.675T>C | NP_001188330.1:p.Asp225= | |
| NM_001201402.1:c.666T>C | NP_001188331.1:p.Asp222= | |
| XM_011536618.1:c.576T>C | XP_011534920.1:p.Asp192= | |
| XM_011536618.2:c.576T>C | XP_011534920.1:p.Asp192= | |
| NM_000153.4:c.744T>C MANE Select | NP_000144.2:p.Asp248= | |
| NM_001201401.2:c.675T>C | NP_001188330.1:p.Asp225= | |
| NM_001201402.2:c.666T>C | NP_001188331.1:p.Asp222= |