Linked Data
ClinVar Variation Id:
215268
dbSNP Id:
rs754140768
ExAC:
16:66547653 G / A
gnomAD v2:
16-66547653-G-A
gnomAD v3:
16-66513750-G-A
gnomAD v4:
16-66513750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66513750G>A , CM000678.2:g.66513750G>A | GRCh38 |
| NC_000016.9:g.66547653G>A , CM000678.1:g.66547653G>A | GRCh37 |
| NC_000016.8:g.65105154G>A | NCBI36 |
| NG_016862.1:g.41663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.512C>T | ENSP00000299697.9:p.Pro171Leu | |
| ENST00000417693.8:c.626C>T | ENSP00000407469.5:p.Pro209Leu | |
| ENST00000451102.7:c.587C>T | ENSP00000414334.4:p.Pro196Leu | |
| ENST00000527284.6:c.563-1684C>T | ||
| ENST00000527800.6:c.389C>T | ENSP00000433770.1:p.Pro130Leu | |
| ENST00000544898.6:c.680C>T MANE Select | ENSP00000440898.2:p.Pro227Leu | |
| ENST00000567357.6:c.*538C>T | ENSP00000457959.2:n.*538C>T | |
| ENST00000569718.6:c.418C>T | ENSP00000464313.2:p.Pro140Ser | |
| ENST00000620035.5:c.436C>T | ENSP00000483833.2:p.Pro146Ser | |
| ENST00000676538.1:c.263C>T | ||
| ENST00000676904.1:c.151C>T | ||
| ENST00000677296.1:n.62C>T | ||
| ENST00000677379.1:c.321C>T | ENSP00000503672.1:n.321C>T | |
| ENST00000677420.1:c.389C>T | ENSP00000504648.1:p.Pro130Leu | |
| ENST00000677555.1:c.389C>T | ENSP00000503331.1:p.Pro130Leu | |
| ENST00000677715.1:c.389C>T | ENSP00000502950.1:p.Pro130Leu | |
| ENST00000677753.1:n.62C>T | ||
| ENST00000677961.1:n.92C>T | ||
| ENST00000678015.1:c.389C>T | ENSP00000502959.1:p.Pro130Leu | |
| ENST00000678190.1:c.62C>T | ENSP00000503824.1:p.Pro21Leu | |
| ENST00000678282.1:n.62C>T | ||
| ENST00000678297.1:c.389C>T | ENSP00000503472.1:p.Pro130Leu | |
| ENST00000299697.11:c.680C>T | ENSP00000299697.8:p.Pro227Leu | |
| ENST00000417693.7:c.752C>T | ENSP00000407469.4:p.Pro251Leu | |
| ENST00000451102.6:c.806C>T | ENSP00000414334.3:p.Pro269Leu | |
| ENST00000525974.5:c.389C>T | ENSP00000434594.1:p.Pro130Leu | |
| ENST00000527284.5:c.587C>T | ENSP00000435312.1:p.Pro196Leu | |
| ENST00000527800.5:c.389C>T | ENSP00000433770.1:p.Pro130Leu | |
| ENST00000544898.5:c.680C>T | ENSP00000440898.2:p.Pro227Leu | |
| ENST00000545043.6:c.605C>T | ENSP00000438143.2:p.Pro202Leu | |
| ENST00000561527.5:n.239C>T | ||
| ENST00000561728.1:c.129C>T | ||
| ENST00000561905.2:c.34C>T | ||
| ENST00000562552.5:n.496C>T | ||
| ENST00000563099.5:n.207C>T | ||
| ENST00000563369.6:c.389C>T | ENSP00000463560.1:p.Pro130Leu | |
| ENST00000563478.5:c.389C>T | ENSP00000462341.1:p.Pro130Leu | |
| ENST00000564792.1:n.335C>T | ||
| ENST00000564917.5:c.731C>T | ENSP00000455187.1:p.Pro244Leu | |
| ENST00000567357.5:c.*538C>T | ENSP00000457959.1:n.*538C>T | |
| ENST00000569718.5:c.405C>T | ||
| ENST00000620035.4:c.626C>T | ENSP00000483833.1:p.Pro209Leu | |
| NM_001172643.1:c.587C>T | NP_001166114.1:p.Pro196Leu | |
| NM_001172644.1:c.605C>T | NP_001166115.1:p.Pro202Leu | |
| NM_001172645.1:c.626C>T | NP_001166116.1:p.Pro209Leu | |
| NM_001271934.1:c.533C>T | NP_001258863.1:p.Pro178Leu | |
| NM_001271935.1:c.418C>T | NP_001258864.1:p.Pro140Ser | |
| NM_001272050.1:c.389C>T | NP_001258979.1:p.Pro130Leu | |
| NM_004614.4:c.680C>T | NP_004605.4:p.Pro227Leu | |
| NR_073520.1:n.1959C>T | ||
| NM_001172644.2:c.605C>T | NP_001166115.1:p.Pro202Leu | |
| NM_001271934.2:c.533C>T | NP_001258863.1:p.Pro178Leu | |
| NM_001272050.2:c.389C>T | NP_001258979.1:p.Pro130Leu | |
| NM_004614.5:c.680C>T MANE Select | NP_004605.4:p.Pro227Leu | |
| NR_073520.2:n.1669C>T | ||
| NM_001172645.2:c.626C>T | NP_001166116.1:p.Pro209Leu |