Linked Data
ClinVar Variation Id:
349360
dbSNP Id:
rs528424908
gnomAD v2:
4-6304895-C-A
gnomAD v3:
4-6303168-C-A
gnomAD v4:
4-6303168-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6303168C>A , CM000666.2:g.6303168C>A | GRCh38 |
| NC_000004.11:g.6304895C>A , CM000666.1:g.6304895C>A | GRCh37 |
| NC_000004.10:g.6355796C>A | NCBI36 |
| NG_011700.1:g.38319C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.*700C>A | ENSP00000507852.1:n.*700C>A | |
| ENST00000683395.1:c.3350C>A | ||
| ENST00000684087.1:c.*700C>A | ENSP00000506978.1:n.*700C>A | |
| ENST00000673991.1:c.*700C>A | ENSP00000501033.1:n.*700C>A | |
| ENST00000226760.5:c.*700C>A MANE Select | ENSP00000226760.1:n.*700C>A | |
| ENST00000507765.1:n.3558C>A | ||
| NM_001145853.1:c.*700C>A | NP_001139325.1:n.*700C>A | |
| NM_006005.3:c.*700C>A MANE Select | NP_005996.2:n.*700C>A | |
| XM_017008586.1:c.*700C>A | XP_016864075.1:n.*700C>A | |
| XR_001741566.2:n.1777G>T |