Linked Data
dbSNP Id:
rs780464244
ExAC:
1:227081821 C / T
gnomAD v2:
1-227081821-C-T
gnomAD v4:
1-226894120-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226894120C>T , CM000663.2:g.226894120C>T | GRCh38 |
| NC_000001.10:g.227081821C>T , CM000663.1:g.227081821C>T | GRCh37 |
| NC_000001.9:g.225148444C>T | NCBI36 |
| NG_007381.1:g.28549C>T | |
| NG_012825.2:g.1585C>T | |
| NG_007381.2:g.28937C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.1186C>T | ENSP00000355741.2:p.Leu396Phe | |
| ENST00000366782.6:c.1186C>T | ENSP00000355746.2:p.Leu396Phe | |
| ENST00000366783.8:c.1186C>T MANE Select | ENSP00000355747.3:p.Leu396Phe | |
| ENST00000471728.2:n.1824C>T | ||
| ENST00000524196.6:c.1186C>T | ENSP00000429036.2:p.Leu396Phe | |
| ENST00000626989.3:c.1186C>T | ENSP00000486498.2:p.Leu396Phe | |
| ENST00000676467.1:c.*1013C>T | ENSP00000504294.1:n.*1013C>T | |
| ENST00000676747.1:c.1183C>T | ENSP00000503244.1:p.Leu395Phe | |
| ENST00000676884.1:c.1186C>T | ENSP00000503200.1:p.Leu396Phe | |
| ENST00000676888.1:c.*527C>T | ENSP00000504483.1:n.*527C>T | |
| ENST00000676907.1:c.*765C>T | ENSP00000504410.1:n.*765C>T | |
| ENST00000676945.1:c.1186C>T | ENSP00000504433.1:p.Leu396Phe | |
| ENST00000677065.1:n.1747C>T | ||
| ENST00000677414.1:c.1186C>T | ENSP00000503116.1:p.Leu396Phe | |
| ENST00000677529.1:n.2916C>T | ||
| ENST00000677596.1:c.*1408C>T | ENSP00000503618.1:n.*1408C>T | |
| ENST00000677599.1:c.1186C>T | ENSP00000503673.1:p.Leu396Phe | |
| ENST00000677748.1:n.3441C>T | ||
| ENST00000677880.1:c.751C>T | ENSP00000503121.1:p.Leu251Phe | |
| ENST00000678021.1:c.*809C>T | ENSP00000504674.1:n.*809C>T | |
| ENST00000678233.1:c.1186C>T | ENSP00000504728.1:p.Leu396Phe | |
| ENST00000678320.1:c.1087C>T | ENSP00000503680.1:p.Leu363Phe | |
| ENST00000678655.1:c.1087C>T | ENSP00000504230.1:p.Leu363Phe | |
| ENST00000678706.1:c.*563C>T | ENSP00000503659.1:n.*563C>T | |
| ENST00000678776.1:c.*1323C>T | ENSP00000504624.1:n.*1323C>T | |
| ENST00000678784.1:c.1072+2276C>T | ENSP00000504652.1:n.1072+2276C>T | |
| ENST00000678820.1:c.1084C>T | ENSP00000504138.1:p.Leu362Phe | |
| ENST00000678835.1:c.*756+2276C>T | ENSP00000504343.1:n.*756+2276C>T | |
| ENST00000679088.1:c.1186C>T | ENSP00000504727.1:p.Leu396Phe | |
| ENST00000679098.1:c.1186C>T | ENSP00000504303.1:p.Leu396Phe | |
| ENST00000366782.5:c.1285C>T | ENSP00000355746.1:p.Leu429Phe | |
| ENST00000366783.7:c.1186C>T | ENSP00000355747.3:p.Leu396Phe | |
| ENST00000422240.6:c.1183C>T | ENSP00000403737.2:p.Leu395Phe | |
| ENST00000471728.1:n.444C>T | ||
| ENST00000472139.2:c.754C>T | ENSP00000427806.1:p.Leu252Phe | |
| ENST00000626989.2:c.1285C>T | ENSP00000486498.1:p.Leu429Phe | |
| NM_000447.2:c.1186C>T | NP_000438.2:p.Leu396Phe | |
| NM_012486.2:c.1183C>T | NP_036618.2:p.Leu395Phe | |
| XM_005273199.2:c.1186C>T | XP_005273256.1:p.Leu396Phe | |
| XM_011544236.1:c.754C>T | XP_011542538.1:p.Leu252Phe | |
| XR_949149.1:n.1920C>T | ||
| XM_005273199.4:c.1186C>T | XP_005273256.1:p.Leu396Phe | |
| XM_017001835.1:c.1186C>T | XP_016857324.1:p.Leu396Phe | |
| XM_017001836.1:c.1183C>T | XP_016857325.1:p.Leu395Phe | |
| XR_001737316.2:n.1477+2276C>T | ||
| XR_001737317.2:n.1477+2276C>T | ||
| XR_001737318.2:n.1901C>T | ||
| XR_001737319.1:n.2244C>T | ||
| XR_001737320.1:n.2241C>T | ||
| XR_001737321.1:n.1736C>T | ||
| XR_949149.2:n.1898C>T | ||
| XR_949150.3:n.2117C>T | ||
| NM_000447.3:c.1186C>T MANE Select | NP_000438.2:p.Leu396Phe | |
| NM_012486.3:c.1183C>T | NP_036618.2:p.Leu395Phe |