Linked Data
ClinVar Variation Id:
2779737
ClinVar RCV Id:
RCV003649489
dbSNP Id:
rs1775196181
gnomAD v4:
6-136872233-C-T
MyVariant Identifiers:
chr6:g.137193371C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872233C>T , CM000668.2:g.136872233C>T | GRCh38 |
| NC_000006.11:g.137193371C>T , CM000668.1:g.137193371C>T | GRCh37 |
| NC_000006.10:g.137235064C>T | NCBI36 |
| NG_008462.1:g.54654C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.783C>T MANE Select | ENSP00000315680.3:p.Cys261= | |
| ENST00000541292.6:c.*48C>T | ENSP00000441004.1:n.*48C>T | |
| ENST00000678002.1:c.471C>T | ||
| ENST00000678557.1:c.669C>T | ENSP00000502962.1:p.Cys223= | |
| ENST00000678593.1:c.788C>T | ENSP00000503841.1:n.788C>T | |
| ENST00000679286.1:c.663C>T | ENSP00000503168.1:p.Cys221= | |
| ENST00000318471.4:c.783C>T | ENSP00000315680.3:p.Cys261= | |
| NM_000288.3:c.783C>T | NP_000279.1:p.Cys261= | |
| XM_005267019.3:c.669C>T | XP_005267076.1:p.Cys223= | |
| XM_006715502.1:c.489C>T | XP_006715565.1:p.Cys163= | |
| XM_011535900.1:c.527-25909C>T | XP_011534202.1:n.527-25909C>T | |
| XM_005267019.4:c.669C>T | XP_005267076.1:p.Cys223= | |
| XM_006715502.2:c.489C>T | XP_006715565.1:p.Cys163= | |
| XM_017010934.2:c.527-25909C>T | XP_016866423.1:n.527-25909C>T | |
| NM_000288.4:c.783C>T MANE Select | NP_000279.1:p.Cys261= |