Linked Data
ClinVar Variation Id:
931
ClinVar RCV Id:
RCV000000979
dbSNP Id:
rs72555362
ExAC:
3:33093471 C / A
gnomAD v2:
3-33093471-C-A
gnomAD v3:
3-33051979-C-A
gnomAD v4:
3-33051979-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33051979C>A , CM000665.2:g.33051979C>A | GRCh38 |
| NC_000003.11:g.33093471C>A , CM000665.1:g.33093471C>A | GRCh37 |
| NC_000003.10:g.33068475C>A | NCBI36 |
| NG_009005.1:g.50224G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.818G>T MANE Select | ENSP00000306920.4:p.Trp273Leu | |
| ENST00000307363.9:c.818G>T | ENSP00000306920.4:p.Trp273Leu | |
| ENST00000307377.12:c.425G>T | ENSP00000305920.8:p.Trp142Leu | |
| ENST00000399402.7:c.728G>T | ENSP00000382333.2:p.Trp243Leu | |
| ENST00000415454.1:c.341G>T | ENSP00000411813.1:p.Trp114Leu | |
| ENST00000438227.1:c.*310G>T | ENSP00000401250.1:n.*310G>T | |
| ENST00000446732.5:c.*261G>T | ENSP00000407365.1:n.*261G>T | |
| ENST00000482097.5:n.193G>T | ||
| ENST00000485698.5:n.221G>T | ||
| ENST00000498537.5:n.344G>T | ||
| NM_000404.2:c.818G>T | NP_000395.2:p.Trp273Leu | |
| NM_000404.3:c.818G>T | NP_000395.2:p.Trp273Leu | |
| NM_001079811.1:c.728G>T | NP_001073279.1:p.Trp243Leu | |
| NM_001079811.2:c.728G>T | NP_001073279.1:p.Trp243Leu | |
| NM_001135602.1:c.425G>T | NP_001129074.1:p.Trp142Leu | |
| NM_001135602.2:c.425G>T | NP_001129074.1:p.Trp142Leu | |
| NM_001317040.1:c.962G>T | NP_001303969.1:p.Trp321Leu | |
| NM_000404.4:c.818G>T MANE Select | NP_000395.3:p.Trp273Leu | |
| NM_001079811.3:c.728G>T | NP_001073279.2:p.Trp243Leu | |
| NM_001135602.3:c.425G>T | NP_001129074.2:p.Trp142Leu | |
| NM_001317040.2:c.962G>T | NP_001303969.2:p.Trp321Leu | |
| NM_001393580.1:c.818G>T | NP_001380509.1:p.Trp273Leu |