Linked Data
ClinVar Variation Id:
514130
dbSNP Id:
rs863225028
gnomAD v2:
17-15134390-G-A
gnomAD v3:
17-15231073-G-A
gnomAD v4:
17-15231073-G-A
COSMIC:
COSM5029705
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15231073G>A , CM000679.2:g.15231073G>A | GRCh38 |
| NC_000017.10:g.15134390G>A , CM000679.1:g.15134390G>A | GRCh37 |
| NC_000017.9:g.15075115G>A | NCBI36 |
| NG_007949.1:g.39255C>T , LRG_263:g.39255C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312280.9:c.327C>T MANE Select | ENSP00000308937.3:p.Cys109= | |
| ENST00000395936.7:c.*36C>T | ENSP00000379268.1:n.*36C>T | |
| ENST00000395938.7:c.316C>T | ENSP00000379269.3:p.Arg106Cys | |
| ENST00000494511.7:c.123C>T | ENSP00000462782.2:p.Cys41= | |
| ENST00000580584.3:c.123C>T | ENSP00000464468.3:p.Cys41= | |
| ENST00000612492.5:c.327C>T | ENSP00000484631.1:p.Cys109= | |
| ENST00000643451.2:c.*182C>T | ENSP00000494628.1:n.*182C>T | |
| ENST00000644020.1:c.*36C>T | ENSP00000496522.1:n.*36C>T | |
| ENST00000646419.2:c.*36C>T | ENSP00000494871.1:n.*36C>T | |
| ENST00000674651.1:c.327C>T | ENSP00000501727.1:p.Cys109= | |
| ENST00000674673.1:c.327C>T | ENSP00000501804.1:p.Cys109= | |
| ENST00000674707.1:c.123C>T | ENSP00000502250.1:p.Cys41= | |
| ENST00000674868.1:c.327C>T | ENSP00000502835.1:p.Cys109= | |
| ENST00000674871.1:n.343C>T | ||
| ENST00000674947.1:c.316C>T | ENSP00000501580.1:p.Arg106Cys | |
| ENST00000675197.1:n.307C>T | ||
| ENST00000675350.1:c.327C>T | ENSP00000501557.1:p.Cys109= | |
| ENST00000675551.1:c.494C>T | ENSP00000501945.1:p.Ala165Val | |
| ENST00000675808.1:c.327C>T | ENSP00000502310.1:p.Cys109= | |
| ENST00000675819.1:c.327C>T | ENSP00000502018.1:p.Cys109= | |
| ENST00000675854.1:c.123C>T | ENSP00000502324.1:p.Cys41= | |
| ENST00000675950.1:c.327C>T | ENSP00000501546.1:p.Cys109= | |
| ENST00000676002.1:n.320C>T | ||
| ENST00000676161.1:c.186C>T | ENSP00000501766.1:p.Cys62= | |
| ENST00000676221.1:c.327C>T | ENSP00000502601.1:p.Cys109= | |
| ENST00000676329.1:c.429C>T | ENSP00000501698.1:p.Cys143= | |
| ENST00000312280.7:c.327C>T | ENSP00000308937.3:p.Cys109= | |
| ENST00000395936.5:c.*36C>T | ENSP00000379268.1:n.*36C>T | |
| ENST00000395938.6:c.327C>T | ENSP00000379269.2:p.Cys109= | |
| ENST00000494511.5:c.148C>T | ENSP00000462782.1:p.Arg50Cys | |
| ENST00000580584.1:c.148C>T | ENSP00000464468.1:p.Arg50Cys | |
| ENST00000612492.4:c.327C>T | ENSP00000484631.1:p.Cys109= | |
| NM_000304.3:c.327C>T | NP_000295.1:p.Cys109= | |
| NM_001281455.1:c.327C>T | NP_001268384.1:p.Cys109= | |
| NM_001281456.1:c.327C>T | NP_001268385.1:p.Cys109= | |
| NM_153321.2:c.327C>T | NP_696996.1:p.Cys109= | |
| NM_153322.2:c.327C>T | NP_696997.1:p.Cys109= | |
| NR_104017.1:n.453C>T | ||
| NR_104018.1:n.353C>T | ||
| NM_000304.4:c.327C>T MANE Select | NP_000295.1:p.Cys109= | |
| NM_001281456.2:c.327C>T | NP_001268385.1:p.Cys109= | |
| NM_153321.3:c.327C>T | NP_696996.1:p.Cys109= | |
| NM_153322.3:c.327C>T | NP_696997.1:p.Cys109= | |
| NR_104017.2:n.422C>T | ||
| NR_104018.2:n.322C>T | ||
| NM_001281455.2:c.327C>T | NP_001268384.1:p.Cys109= |