Linked Data
ClinVar Variation Id:
349349
dbSNP Id:
rs886059536
gnomAD v2:
4-6304701-C-T
gnomAD v3:
4-6302974-C-T
gnomAD v4:
4-6302974-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302974C>T , CM000666.2:g.6302974C>T | GRCh38 |
| NC_000004.11:g.6304701C>T , CM000666.1:g.6304701C>T | GRCh37 |
| NC_000004.10:g.6355602C>T | NCBI36 |
| NG_011700.1:g.38125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.*506C>T | ENSP00000507852.1:n.*506C>T | |
| ENST00000683395.1:c.3156C>T | ||
| ENST00000684087.1:c.*506C>T | ENSP00000506978.1:n.*506C>T | |
| ENST00000673991.1:c.*506C>T | ENSP00000501033.1:n.*506C>T | |
| ENST00000226760.5:c.*506C>T MANE Select | ENSP00000226760.1:n.*506C>T | |
| ENST00000507765.1:n.3364C>T | ||
| NM_001145853.1:c.*506C>T | NP_001139325.1:n.*506C>T | |
| NM_006005.3:c.*506C>T MANE Select | NP_005996.2:n.*506C>T | |
| XM_017008586.1:c.*506C>T | XP_016864075.1:n.*506C>T | |
| XR_001741566.2:n.1971G>A |