Linked Data
ClinVar Variation Id:
1118625
ClinVar RCV Id:
RCV001447765
dbSNP Id:
rs2138660674
gnomAD v4:
14-28767630-C-T
MyVariant Identifiers:
chr14:g.29236836C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767630C>T , CM000676.2:g.28767630C>T | GRCh38 |
| NC_000014.8:g.29236836C>T , CM000676.1:g.29236836C>T | GRCh37 |
| NC_000014.7:g.28306587C>T | NCBI36 |
| NG_009367.1:g.5550C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.351C>T | ENSP00000516406.1:p.Asp117= | |
| ENST00000313071.7:c.351C>T MANE Select | ENSP00000339004.3:p.Asp117= | |
| ENST00000313071.6:c.351C>T | ENSP00000339004.3:p.Asp117= | |
| NM_005249.4:c.351C>T | NP_005240.3:p.Asp117= | |
| NM_005249.5:c.351C>T MANE Select | NP_005240.3:p.Asp117= |