MyVariant.info:
GRCh37
chr5:g.70942049T>C
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646222T>C , CM000667.2:g.71646222T>C | GRCh38 |
| NC_000005.9:g.70942049T>C , CM000667.1:g.70942049T>C | GRCh37 |
| NC_000005.8:g.70977805T>C | NCBI36 |
| NG_008882.1:g.63935T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2769T>C | ||
| ENST00000505787.8:n.2992T>C | ||
| ENST00000509539.3:c.487T>C | ENSP00000425474.3:n.487T>C | |
| ENST00000681968.1:c.654T>C | ENSP00000508143.1:p.Phe218= | |
| ENST00000681991.1:n.1245T>C | ||
| ENST00000682045.1:c.1017T>C | ENSP00000507329.1:p.Phe339= | |
| ENST00000682214.1:c.768T>C | ENSP00000507336.1:p.Phe256= | |
| ENST00000682231.1:n.179T>C | ||
| ENST00000682438.1:n.3160T>C | ||
| ENST00000682499.1:n.1982T>C | ||
| ENST00000682541.1:c.*59T>C | ENSP00000507673.1:n.*59T>C | |
| ENST00000682640.1:n.865T>C | ||
| ENST00000682667.1:n.1326T>C | ||
| ENST00000682687.1:c.*113T>C | ENSP00000507945.1:n.*113T>C | |
| ENST00000682727.1:c.1152T>C | ENSP00000507393.1:p.Phe384= | |
| ENST00000682876.1:c.1290T>C | ENSP00000508389.1:p.Phe430= | |
| ENST00000683098.1:c.815T>C | ENSP00000507670.1:p.Leu272Ser | |
| ENST00000683258.1:c.*882T>C | ENSP00000507448.1:n.*882T>C | |
| ENST00000683339.1:c.945T>C | ENSP00000507758.1:p.Phe315= | |
| ENST00000683403.1:c.1071T>C | ENSP00000507896.1:p.Phe357= | |
| ENST00000683429.1:c.768T>C | ENSP00000507697.1:p.Phe256= | |
| ENST00000683789.1:c.1047T>C | ENSP00000507012.1:p.Phe349= | |
| ENST00000683847.1:n.1331T>C | ||
| ENST00000683882.1:c.*102T>C | ENSP00000506735.1:n.*102T>C | |
| ENST00000684024.1:c.*832T>C | ENSP00000507175.1:n.*832T>C | |
| ENST00000684132.1:c.89T>C | ||
| ENST00000684254.1:c.*887T>C | ENSP00000508001.1:n.*887T>C | |
| ENST00000684310.1:c.327T>C | ENSP00000507550.1:p.Phe109= | |
| ENST00000684474.1:n.797T>C | ||
| ENST00000684530.1:c.335-2875T>C | ENSP00000507439.1:n.335-2875T>C | |
| ENST00000684686.1:n.780T>C | ||
| ENST00000340941.11:c.1161T>C MANE Select | ENSP00000343657.6:p.Phe387= | |
| ENST00000340941.10:c.1161T>C | ENSP00000343657.6:p.Phe387= | |
| ENST00000509539.2:c.477T>C | ENSP00000425474.2:p.Phe159= | |
| ENST00000512218.6:c.*113T>C | ENSP00000423202.2:n.*113T>C | |
| NM_022132.4:c.1161T>C | NP_071415.1:p.Phe387= | |
| XM_005248567.1:c.1047T>C | XP_005248624.1:p.Phe349= | |
| NM_001363147.1:c.1047T>C | NP_001350076.1:p.Phe349= | |
| XR_001742172.1:n.1249T>C | ||
| NM_022132.5:c.1161T>C MANE Select | NP_071415.1:p.Phe387= |