ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71632199G>T , CM000667.2:g.71632199G>T | GRCh38 |
| NC_000005.9:g.70928026G>T , CM000667.1:g.70928026G>T | GRCh37 |
| NC_000005.8:g.70963782G>T | NCBI36 |
| NG_008882.1:g.49912G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.759+14G>T | ||
| ENST00000505787.8:n.2643+14G>T | ||
| ENST00000509358.7:c.803+14G>T | ENSP00000420994.3:n.803+14G>T | |
| ENST00000509539.3:c.65+14G>T | ENSP00000425474.3:n.65+14G>T | |
| ENST00000510895.7:n.926+14G>T | ||
| ENST00000629193.3:c.689+14G>T | ENSP00000486535.2:n.689+14G>T | |
| ENST00000681968.1:c.296+14G>T | ENSP00000508143.1:n.296+14G>T | |
| ENST00000682045.1:c.659+14G>T | ENSP00000507329.1:n.659+14G>T | |
| ENST00000682214.1:c.410+14G>T | ENSP00000507336.1:n.410+14G>T | |
| ENST00000682499.1:n.1624+14G>T | ||
| ENST00000682541.1:c.803+14G>T | ENSP00000507673.1:n.803+14G>T | |
| ENST00000682687.1:c.803+14G>T | ENSP00000507945.1:n.803+14G>T | |
| ENST00000682727.1:c.803+14G>T | ENSP00000507393.1:n.803+14G>T | |
| ENST00000682876.1:c.932+14G>T | ENSP00000508389.1:n.932+14G>T | |
| ENST00000683098.1:c.803+14G>T | ENSP00000507670.1:n.803+14G>T | |
| ENST00000683258.1:c.*524+14G>T | ENSP00000507448.1:n.*524+14G>T | |
| ENST00000683339.1:c.587+14G>T | ENSP00000507758.1:n.587+14G>T | |
| ENST00000683403.1:c.803+14G>T | ENSP00000507896.1:n.803+14G>T | |
| ENST00000683429.1:c.410+14G>T | ENSP00000507697.1:n.410+14G>T | |
| ENST00000683665.1:c.803+14G>T | ENSP00000507068.1:n.803+14G>T | |
| ENST00000683789.1:c.689+14G>T | ENSP00000507012.1:n.689+14G>T | |
| ENST00000683847.1:n.647+14G>T | ||
| ENST00000683882.1:c.803+14G>T | ENSP00000506735.1:n.803+14G>T | |
| ENST00000684024.1:c.*474+14G>T | ENSP00000507175.1:n.*474+14G>T | |
| ENST00000684254.1:c.*529+14G>T | ENSP00000508001.1:n.*529+14G>T | |
| ENST00000684310.1:c.65+14G>T | ENSP00000507550.1:n.65+14G>T | |
| ENST00000684530.1:c.65+14G>T | ENSP00000507439.1:n.65+14G>T | |
| ENST00000340941.11:c.803+14G>T MANE Select | ENSP00000343657.6:n.803+14G>T | |
| ENST00000340941.10:c.803+14G>T | ENSP00000343657.6:n.803+14G>T | |
| ENST00000505435.3:n.154+14G>T | ||
| ENST00000505787.7:n.617+14G>T | ||
| ENST00000509358.6:c.803+14G>T | ENSP00000420994.2:n.803+14G>T | |
| ENST00000509539.2:c.128+14G>T | ENSP00000425474.2:n.128+14G>T | |
| ENST00000510895.6:n.417+14G>T | ||
| ENST00000512218.6:c.689+14G>T | ENSP00000423202.2:n.689+14G>T | |
| ENST00000629193.2:c.689+14G>T | ENSP00000486535.1:n.689+14G>T | |
| NM_022132.4:c.803+14G>T | NP_071415.1:n.803+14G>T | |
| XM_005248567.1:c.689+14G>T | XP_005248624.1:n.689+14G>T | |
| XM_011543528.1:c.803+14G>T | XP_011541830.1:n.803+14G>T | |
| XM_011543529.1:c.803+14G>T | XP_011541831.1:n.803+14G>T | |
| NM_001363147.1:c.689+14G>T | NP_001350076.1:n.689+14G>T | |
| XM_011543529.2:c.803+14G>T | XP_011541831.1:n.803+14G>T | |
| XM_017009688.1:c.803+14G>T | XP_016865177.1:n.803+14G>T | |
| XR_001742172.1:n.843+14G>T | ||
| NM_022132.5:c.803+14G>T MANE Select | NP_071415.1:n.803+14G>T |