Linked Data
ClinVar Variation Id:
295982
dbSNP Id:
rs199532840
gnomAD v2:
1-227059034-C-T
gnomAD v3:
1-226871333-C-T
gnomAD v4:
1-226871333-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226871333C>T , CM000663.2:g.226871333C>T | GRCh38 |
| NC_000001.10:g.227059034C>T , CM000663.1:g.227059034C>T | GRCh37 |
| NC_000001.9:g.225125657C>T | NCBI36 |
| NG_007381.1:g.5762C>T | |
| NG_007381.2:g.6150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.-278C>T | ENSP00000355741.2:n.-278C>T | |
| ENST00000366782.6:c.-534C>T | ENSP00000355746.2:n.-534C>T | |
| ENST00000366783.8:c.-278C>T MANE Select | ENSP00000355747.3:n.-278C>T | |
| ENST00000524196.6:c.-278C>T | ENSP00000429036.2:n.-278C>T | |
| ENST00000676467.1:c.-278C>T | ENSP00000504294.1:n.-278C>T | |
| ENST00000676747.1:c.-207+684C>T | ENSP00000503244.1:n.-207+684C>T | |
| ENST00000676840.1:c.-278C>T | ENSP00000504318.1:n.-278C>T | |
| ENST00000676884.1:c.-278C>T | ENSP00000503200.1:n.-278C>T | |
| ENST00000676888.1:c.-278C>T | ENSP00000504483.1:n.-278C>T | |
| ENST00000676907.1:c.-278C>T | ENSP00000504410.1:n.-278C>T | |
| ENST00000676945.1:c.-278C>T | ENSP00000504433.1:n.-278C>T | |
| ENST00000677414.1:c.-207+684C>T | ENSP00000503116.1:n.-207+684C>T | |
| ENST00000677529.1:n.161C>T | ||
| ENST00000677596.1:c.-278C>T | ENSP00000503618.1:n.-278C>T | |
| ENST00000677599.1:c.-278C>T | ENSP00000503673.1:n.-278C>T | |
| ENST00000677748.1:n.161C>T | ||
| ENST00000677880.1:c.-411C>T | ENSP00000503121.1:n.-411C>T | |
| ENST00000678021.1:c.-278C>T | ENSP00000504674.1:n.-278C>T | |
| ENST00000678233.1:c.-278C>T | ENSP00000504728.1:n.-278C>T | |
| ENST00000678320.1:c.-278C>T | ENSP00000503680.1:n.-278C>T | |
| ENST00000678655.1:c.-278C>T | ENSP00000504230.1:n.-278C>T | |
| ENST00000678706.1:c.-278C>T | ENSP00000503659.1:n.-278C>T | |
| ENST00000678776.1:c.-278C>T | ENSP00000504624.1:n.-278C>T | |
| ENST00000678784.1:c.-278C>T | ENSP00000504652.1:n.-278C>T | |
| ENST00000678820.1:c.-278C>T | ENSP00000504138.1:n.-278C>T | |
| ENST00000678835.1:c.-278C>T | ENSP00000504343.1:n.-278C>T | |
| ENST00000679088.1:c.-1726C>T | ENSP00000504727.1:n.-1726C>T | |
| ENST00000679098.1:c.-278C>T | ENSP00000504303.1:n.-278C>T | |
| ENST00000366782.5:c.-435C>T | ENSP00000355746.1:n.-435C>T | |
| ENST00000366783.7:c.-278C>T | ENSP00000355747.3:n.-278C>T | |
| ENST00000422240.6:c.-278C>T | ENSP00000403737.2:n.-278C>T | |
| ENST00000460775.5:c.-279C>T | ENSP00000427912.1:n.-279C>T | |
| ENST00000495488.5:c.-207+684C>T | ENSP00000429682.1:n.-207+684C>T | |
| ENST00000521431.1:n.471C>T | ||
| ENST00000524196.5:c.-278C>T | ENSP00000429036.1:n.-278C>T | |
| NM_000447.2:c.-278C>T | NP_000438.2:n.-278C>T | |
| NM_012486.2:c.-278C>T | NP_036618.2:n.-278C>T | |
| XM_005273199.2:c.-207+684C>T | XP_005273256.1:n.-207+684C>T | |
| XM_011544236.1:c.-334C>T | XP_011542538.1:n.-334C>T | |
| XR_949149.1:n.150C>T | ||
| XR_949150.1:n.150C>T | ||
| XM_005273199.4:c.-207+684C>T | XP_005273256.1:n.-207+684C>T | |
| XM_017001835.1:c.-278C>T | XP_016857324.1:n.-278C>T | |
| XM_017001836.1:c.-207+684C>T | XP_016857325.1:n.-207+684C>T | |
| XR_001737316.2:n.128C>T | ||
| XR_001737317.2:n.128C>T | ||
| XR_001737318.2:n.128C>T | ||
| XR_001737319.1:n.471C>T | ||
| XR_001737320.1:n.471C>T | ||
| XR_001737321.1:n.34+684C>T | ||
| XR_949149.2:n.128C>T | ||
| XR_949150.3:n.128C>T | ||
| NM_000447.3:c.-278C>T MANE Select | NP_000438.2:n.-278C>T | |
| NM_012486.3:c.-278C>T | NP_036618.2:n.-278C>T |