Linked Data
ClinVar Variation Id:
706493
dbSNP Id:
rs752074639
ExAC:
3:178916811 T / C
gnomAD v2:
3-178916811-T-C
gnomAD v4:
3-179199023-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179199023T>C , CM000665.2:g.179199023T>C | GRCh38 |
| NC_000003.11:g.178916811T>C , CM000665.1:g.178916811T>C | GRCh37 |
| NC_000003.10:g.180399505T>C | NCBI36 |
| NG_012113.2:g.55501T>C , LRG_310:g.55501T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.198T>C MANE Select | ENSP00000263967.3:p.Ser66= | |
| ENST00000643187.1:c.198T>C | ENSP00000493507.1:p.Ser66= | |
| ENST00000675467.1:n.3005T>C | ||
| ENST00000675786.1:c.198T>C | ENSP00000502323.1:p.Ser66= | |
| ENST00000263967.3:c.198T>C | ENSP00000263967.3:p.Ser66= | |
| ENST00000468036.1:c.198T>C | ENSP00000417479.1:p.Ser66= | |
| NM_006218.2:c.198T>C , LRG_310t1:c.198T>C | NP_006209.2:p.Ser66= | |
| XM_006713658.2:c.198T>C | XP_006713721.1:p.Ser66= | |
| XM_011512894.1:c.198T>C | XP_011511196.1:p.Ser66= | |
| NM_006218.3:c.198T>C | NP_006209.2:p.Ser66= | |
| XM_006713658.4:c.198T>C | XP_006713721.1:p.Ser66= | |
| XM_011512894.2:c.198T>C | XP_011511196.1:p.Ser66= | |
| NM_006218.4:c.198T>C MANE Select | NP_006209.2:p.Ser66= |