Linked Data
ClinVar Variation Id:
1181592
ClinVar RCV Id:
RCV001539013
dbSNP Id:
rs11709323
gnomAD v2:
3-178916519-T-C
gnomAD v3:
3-179198731-T-C
gnomAD v4:
3-179198731-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179198731T>C , CM000665.2:g.179198731T>C | GRCh38 |
| NC_000003.11:g.178916519T>C , CM000665.1:g.178916519T>C | GRCh37 |
| NC_000003.10:g.180399213T>C | NCBI36 |
| NG_012113.2:g.55209T>C , LRG_310:g.55209T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.-76-19T>C MANE Select | ENSP00000263967.3:n.-76-19T>C | |
| ENST00000643187.1:c.-76-19T>C | ENSP00000493507.1:n.-76-19T>C | |
| ENST00000675467.1:n.2713T>C | ||
| ENST00000675786.1:c.-76-19T>C | ENSP00000502323.1:n.-76-19T>C | |
| ENST00000263967.3:c.-76-19T>C | ENSP00000263967.3:n.-76-19T>C | |
| ENST00000468036.1:c.-76-19T>C | ENSP00000417479.1:n.-76-19T>C | |
| ENST00000477735.1:c.-76-19T>C | ENSP00000418145.1:n.-76-19T>C | |
| NM_006218.2:c.-76-19T>C , LRG_310t1:c.-76-19T>C | NP_006209.2:n.-76-19T>C | |
| XM_006713658.2:c.-76-19T>C | XP_006713721.1:n.-76-19T>C | |
| XM_011512894.1:c.-76-19T>C | XP_011511196.1:n.-76-19T>C | |
| NM_006218.3:c.-76-19T>C | NP_006209.2:n.-76-19T>C | |
| XM_006713658.4:c.-76-19T>C | XP_006713721.1:n.-76-19T>C | |
| XM_011512894.2:c.-76-19T>C | XP_011511196.1:n.-76-19T>C | |
| NM_006218.4:c.-76-19T>C MANE Select | NP_006209.2:n.-76-19T>C |