Linked Data
ClinVar Variation Id:
1101063
ClinVar RCV Id:
RCV001423883
dbSNP Id:
rs1201120298
gnomAD v2:
10-104594953-C-T
gnomAD v3:
10-102835196-C-T
gnomAD v4:
10-102835196-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835196C>T , CM000672.2:g.102835196C>T | GRCh38 |
| NC_000010.10:g.104594953C>T , CM000672.1:g.104594953C>T | GRCh37 |
| NC_000010.9:g.104584943C>T | NCBI36 |
| NG_007955.1:g.7338G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.436+58G>A MANE Select | ENSP00000358903.3:n.436+58G>A | |
| ENST00000638190.1:c.436+58G>A | ENSP00000492539.1:n.436+58G>A | |
| ENST00000638272.1:c.297+1869G>A | ENSP00000491508.1:n.297+1869G>A | |
| ENST00000638971.1:c.436+58G>A | ENSP00000492313.1:n.436+58G>A | |
| ENST00000639393.1:c.436+58G>A | ENSP00000492651.1:n.436+58G>A | |
| ENST00000640633.1:n.198+58G>A | ||
| ENST00000369887.3:c.436+58G>A | ENSP00000358903.3:n.436+58G>A | |
| ENST00000489268.1:n.690+58G>A | ||
| NM_000102.3:c.436+58G>A | NP_000093.1:n.436+58G>A | |
| NM_000102.4:c.436+58G>A MANE Select | NP_000093.1:n.436+58G>A |