Linked Data
ClinVar Variation Id:
346001
dbSNP Id:
rs201289156
ExAC:
3:49163449 G / A
gnomAD v2:
3-49163449-G-A
gnomAD v3:
3-49126016-G-A
gnomAD v4:
3-49126016-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49126016G>A , CM000665.2:g.49126016G>A | GRCh38 |
| NC_000003.11:g.49163449G>A , CM000665.1:g.49163449G>A | GRCh37 |
| NC_000003.10:g.49138453G>A | NCBI36 |
| NG_008094.1:g.12151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2295C>T MANE Select | ENSP00000307156.4:p.Cys765= | |
| ENST00000305544.8:c.2295C>T | ENSP00000307156.4:p.Cys765= | |
| ENST00000418109.5:c.2295C>T | ENSP00000388325.1:p.Cys765= | |
| ENST00000477701.1:n.168C>T | ||
| ENST00000486298.5:n.376C>T | ||
| ENST00000493571.1:n.205C>T | ||
| NM_002292.3:c.2295C>T | NP_002283.3:p.Cys765= | |
| XM_005265127.3:c.2295C>T | XP_005265184.1:p.Cys765= | |
| XM_005265127.4:c.2295C>T | XP_005265184.1:p.Cys765= | |
| NM_002292.4:c.2295C>T MANE Select | NP_002283.3:p.Cys765= |