Linked Data
ClinVar Variation Id:
1557225
ClinVar RCV Id:
RCV002188228
dbSNP Id:
rs763613633
MyVariant Identifiers:
chr14:g.74951163G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74484460G>A , CM000676.2:g.74484460G>A | GRCh38 |
| NC_000014.8:g.74951163G>A , CM000676.1:g.74951163G>A | GRCh37 |
| NC_000014.7:g.74020916G>A | NCBI36 |
| NG_007117.1:g.13922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555619.6:c.318C>T MANE Select | ENSP00000451112.2:p.Thr106= | |
| ENST00000238633.6:c.318C>T | ENSP00000238633.2:p.Thr106= | |
| ENST00000434013.6:c.318C>T | ENSP00000412103.2:p.Thr106= | |
| ENST00000541064.5:c.318C>T | ENSP00000442488.1:p.Thr106= | |
| ENST00000553490.5:c.318C>T | ENSP00000451180.1:p.Thr106= | |
| ENST00000554482.1:c.158+1869C>T | ENSP00000451314.1:n.158+1869C>T | |
| ENST00000555592.1:c.318C>T | ENSP00000450887.1:p.Thr106= | |
| ENST00000555619.5:c.318C>T | ENSP00000451112.1:p.Thr106= | |
| ENST00000556009.5:c.383C>T | ||
| ENST00000557510.5:c.318C>T | ENSP00000451206.1:p.Thr106= | |
| NM_006432.3:c.318C>T | NP_006423.1:p.Thr106= | |
| NM_001363688.1:c.318C>T | NP_001350617.1:p.Thr106= | |
| NM_006432.4:c.318C>T | NP_006423.1:p.Thr106= | |
| NM_001375440.1:c.318C>T | NP_001362369.1:p.Thr106= | |
| NM_006432.5:c.318C>T MANE Select | NP_006423.1:p.Thr106= |