Linked Data
ClinVar Variation Id:
1790
ClinVar RCV Id:
RCV000001863
dbSNP Id:
rs786205061
PubMed:
PMID:9435441
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835249C>A , CM000672.2:g.102835249C>A | GRCh38 |
| NC_000010.10:g.104595006C>A , CM000672.1:g.104595006C>A | GRCh37 |
| NC_000010.9:g.104584996C>A | NCBI36 |
| NG_007955.1:g.7285G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.436+5G>T MANE Select | ENSP00000358903.3:n.436+5G>T | |
| ENST00000638190.1:c.436+5G>T | ENSP00000492539.1:n.436+5G>T | |
| ENST00000638272.1:c.297+1816G>T | ENSP00000491508.1:n.297+1816G>T | |
| ENST00000638971.1:c.436+5G>T | ENSP00000492313.1:n.436+5G>T | |
| ENST00000639393.1:c.436+5G>T | ENSP00000492651.1:n.436+5G>T | |
| ENST00000640633.1:n.198+5G>T | ||
| ENST00000369887.3:c.436+5G>T | ENSP00000358903.3:n.436+5G>T | |
| ENST00000489268.1:n.690+5G>T | ||
| NM_000102.3:c.436+5G>T | NP_000093.1:n.436+5G>T | |
| NM_000102.4:c.436+5G>T MANE Select | NP_000093.1:n.436+5G>T |