Linked Data
ClinVar Variation Id:
1307100
ClinVar RCV Id:
RCV001760518
dbSNP Id:
rs142373741
gnomAD v4:
6-24503433-G-T
MyVariant Identifiers:
chr6:g.24503661G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503433G>T , CM000668.2:g.24503433G>T | GRCh38 |
| NC_000006.11:g.24503661G>T , CM000668.1:g.24503661G>T | GRCh37 |
| NC_000006.10:g.24611640G>T | NCBI36 |
| NG_008161.1:g.13465G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.609G>T MANE Select | ENSP00000350191.3:p.Pro203= | |
| ENST00000672352.1:c.372G>T | ENSP00000500876.1:p.Pro124= | |
| ENST00000672557.1:c.527G>T | ||
| ENST00000672652.1:c.530G>T | ||
| ENST00000675422.1:n.1369G>T | ||
| ENST00000348925.2:c.609G>T | ENSP00000314649.3:p.Pro203= | |
| ENST00000357578.7:c.609G>T | ENSP00000350191.3:p.Pro203= | |
| ENST00000491546.5:c.525G>T | ENSP00000417687.1:p.Pro175= | |
| NM_001080.3:c.609G>T MANE Select | NP_001071.1:p.Pro203= | |
| NM_170740.1:c.609G>T | NP_733936.1:p.Pro203= | |
| NM_001368954.1:c.609G>T | NP_001355883.1:p.Pro203= |