Linked Data
ClinVar Variation Id:
213175
dbSNP Id:
rs201012726
ExAC:
7:73462020 C / T
gnomAD v2:
7-73462020-C-T
gnomAD v3:
7-74047690-C-T
gnomAD v4:
7-74047690-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74047690C>T , CM000669.2:g.74047690C>T | GRCh38 |
| NC_000007.13:g.73462020C>T , CM000669.1:g.73462020C>T | GRCh37 |
| NC_000007.12:g.73099956C>T | NCBI36 |
| NG_009261.1:g.24594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.659C>T | ENSP00000510104.1:p.Pro220Leu | |
| ENST00000252034.12:c.659C>T MANE Select | ENSP00000252034.7:p.Pro220Leu | |
| ENST00000252034.11:c.659C>T | ENSP00000252034.7:p.Pro220Leu | |
| ENST00000320399.10:c.659C>T | ENSP00000313565.6:p.Pro220Leu | |
| ENST00000320492.11:c.578-452C>T | ENSP00000315607.7:n.578-452C>T | |
| ENST00000357036.9:c.674C>T | ENSP00000349540.5:p.Pro225Leu | |
| ENST00000358929.8:c.659C>T | ENSP00000351807.5:p.Pro220Leu | |
| ENST00000380553.8:c.335-452C>T | ENSP00000369926.4:n.335-452C>T | |
| ENST00000380562.8:c.659C>T | ENSP00000369936.4:p.Pro220Leu | |
| ENST00000380575.8:c.629C>T | ENSP00000369949.4:p.Pro210Leu | |
| ENST00000380576.9:c.659C>T | ENSP00000369950.5:p.Pro220Leu | |
| ENST00000380584.8:c.644-452C>T | ENSP00000369958.4:n.644-452C>T | |
| ENST00000414324.5:c.644C>T | ENSP00000392575.1:p.Pro215Leu | |
| ENST00000417091.5:c.557C>T | ENSP00000411092.1:p.Pro186Leu | |
| ENST00000428787.5:c.413C>T | ENSP00000399499.1:p.Pro138Leu | |
| ENST00000429192.5:c.674C>T | ENSP00000391129.1:p.Pro225Leu | |
| ENST00000438880.5:c.269-452C>T | ENSP00000389206.1:n.269-452C>T | |
| ENST00000438906.5:c.593C>T | ENSP00000406949.1:p.Pro198Leu | |
| ENST00000445912.5:c.659C>T | ENSP00000389857.1:p.Pro220Leu | |
| ENST00000458204.5:c.629C>T | ENSP00000403162.1:p.Pro210Leu | |
| ENST00000477397.1:n.543C>T | ||
| ENST00000493839.1:n.125C>T | ||
| ENST00000621115.4:c.527C>T | ENSP00000480955.1:p.Pro176Leu | |
| NM_000501.3:c.659C>T | NP_000492.2:p.Pro220Leu | |
| NM_001081752.2:c.629C>T | NP_001075221.1:p.Pro210Leu | |
| NM_001081753.2:c.674C>T | NP_001075222.1:p.Pro225Leu | |
| NM_001081754.2:c.674C>T | NP_001075223.1:p.Pro225Leu | |
| NM_001081755.2:c.659C>T | NP_001075224.1:p.Pro220Leu | |
| NM_001278912.1:c.659C>T | NP_001265841.1:p.Pro220Leu | |
| NM_001278913.1:c.578-452C>T | NP_001265842.1:n.578-452C>T | |
| NM_001278914.1:c.644C>T | NP_001265843.1:p.Pro215Leu | |
| NM_001278915.1:c.659C>T | NP_001265844.1:p.Pro220Leu | |
| NM_001278916.1:c.644-452C>T | NP_001265845.1:n.644-452C>T | |
| NM_001278917.1:c.629C>T | NP_001265846.1:p.Pro210Leu | |
| NM_001278918.1:c.527C>T | NP_001265847.1:p.Pro176Leu | |
| NM_001278939.1:c.659C>T | NP_001265868.1:p.Pro220Leu | |
| XM_005250187.1:c.623C>T | XP_005250244.1:p.Pro208Leu | |
| XM_005250188.1:c.644-452C>T | XP_005250245.1:n.644-452C>T | |
| XM_011515868.1:c.674C>T | XP_011514170.1:p.Pro225Leu | |
| XM_011515869.1:c.644C>T | XP_011514171.1:p.Pro215Leu | |
| XM_011515870.1:c.638C>T | XP_011514172.1:p.Pro213Leu | |
| XM_011515871.1:c.659-452C>T | XP_011514173.1:n.659-452C>T | |
| XM_011515872.1:c.674C>T | XP_011514174.1:p.Pro225Leu | |
| XM_011515873.1:c.674C>T | XP_011514175.1:p.Pro225Leu | |
| XM_011515874.1:c.608C>T | XP_011514176.1:p.Pro203Leu | |
| XM_011515875.1:c.593C>T | XP_011514177.1:p.Pro198Leu | |
| XM_011515876.1:c.674C>T | XP_011514178.1:p.Pro225Leu | |
| XM_011515877.1:c.674C>T | XP_011514179.1:p.Pro225Leu | |
| XM_005250187.2:c.623C>T | XP_005250244.1:p.Pro208Leu | |
| XM_005250188.2:c.644-452C>T | XP_005250245.1:n.644-452C>T | |
| XM_011515868.2:c.674C>T | XP_011514170.1:p.Pro225Leu | |
| XM_011515871.2:c.659-452C>T | XP_011514173.1:n.659-452C>T | |
| XM_011515872.2:c.674C>T | XP_011514174.1:p.Pro225Leu | |
| XM_011515873.2:c.674C>T | XP_011514175.1:p.Pro225Leu | |
| XM_011515875.2:c.593C>T | XP_011514177.1:p.Pro198Leu | |
| XM_011515876.2:c.674C>T | XP_011514178.1:p.Pro225Leu | |
| XM_011515877.2:c.674C>T | XP_011514179.1:p.Pro225Leu | |
| XM_017011813.1:c.614-452C>T | XP_016867302.1:n.614-452C>T | |
| XM_017011814.2:c.659-452C>T | XP_016867303.1:n.659-452C>T | |
| NM_000501.4:c.659C>T MANE Select | NP_000492.2:p.Pro220Leu | |
| NM_001081752.3:c.629C>T | NP_001075221.1:p.Pro210Leu | |
| NM_001081753.3:c.674C>T | NP_001075222.1:p.Pro225Leu | |
| NM_001081754.3:c.674C>T | NP_001075223.1:p.Pro225Leu | |
| NM_001081755.3:c.659C>T | NP_001075224.1:p.Pro220Leu | |
| NM_001278912.2:c.659C>T | NP_001265841.1:p.Pro220Leu | |
| NM_001278913.2:c.578-452C>T | NP_001265842.1:n.578-452C>T | |
| NM_001278914.2:c.644C>T | NP_001265843.1:p.Pro215Leu | |
| NM_001278915.2:c.659C>T | NP_001265844.1:p.Pro220Leu | |
| NM_001278916.2:c.644-452C>T | NP_001265845.1:n.644-452C>T | |
| NM_001278917.2:c.629C>T | NP_001265846.1:p.Pro210Leu | |
| NM_001278918.2:c.527C>T | NP_001265847.1:p.Pro176Leu | |
| NM_001278939.2:c.659C>T | NP_001265868.1:p.Pro220Leu |