Linked Data
ClinVar Variation Id:
1563900
ClinVar RCV Id:
RCV002209580
dbSNP Id:
rs1775686747
gnomAD v4:
6-136898220-C-T
COSMIC:
COSM4511848
MyVariant Identifiers:
chr6:g.137219358C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136898220C>T , CM000668.2:g.136898220C>T | GRCh38 |
| NC_000006.11:g.137219358C>T , CM000668.1:g.137219358C>T | GRCh37 |
| NC_000006.10:g.137261051C>T | NCBI36 |
| NG_008462.1:g.80641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.882C>T MANE Select | ENSP00000315680.3:p.Phe294= | |
| ENST00000541292.6:c.*147C>T | ENSP00000441004.1:n.*147C>T | |
| ENST00000678002.1:c.570C>T | ||
| ENST00000678557.1:c.768C>T | ENSP00000502962.1:p.Phe256= | |
| ENST00000679286.1:c.762C>T | ENSP00000503168.1:p.Phe254= | |
| ENST00000318471.4:c.882C>T | ENSP00000315680.3:p.Phe294= | |
| NM_000288.3:c.882C>T | NP_000279.1:p.Phe294= | |
| XM_005267019.3:c.768C>T | XP_005267076.1:p.Phe256= | |
| XM_006715502.1:c.588C>T | XP_006715565.1:p.Phe196= | |
| XM_011535900.1:c.*5C>T | XP_011534202.1:n.*5C>T | |
| XM_005267019.4:c.768C>T | XP_005267076.1:p.Phe256= | |
| XM_006715502.2:c.588C>T | XP_006715565.1:p.Phe196= | |
| XM_017010934.2:c.*5C>T | XP_016866423.1:n.*5C>T | |
| NM_000288.4:c.882C>T MANE Select | NP_000279.1:p.Phe294= |