ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71635055T>C , CM000667.2:g.71635055T>C | GRCh38 |
| NC_000005.9:g.70930882T>C , CM000667.1:g.70930882T>C | GRCh37 |
| NC_000005.8:g.70966638T>C | NCBI36 |
| NG_008882.1:g.52768T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.859+13T>C | ||
| ENST00000505787.8:n.2743+13T>C | ||
| ENST00000509358.7:c.903+13T>C | ENSP00000420994.3:n.903+13T>C | |
| ENST00000509539.3:c.165+13T>C | ENSP00000425474.3:n.165+13T>C | |
| ENST00000510895.7:n.1026+13T>C | ||
| ENST00000629193.3:c.789+13T>C | ENSP00000486535.2:n.789+13T>C | |
| ENST00000681968.1:c.396+13T>C | ENSP00000508143.1:n.396+13T>C | |
| ENST00000682045.1:c.759+13T>C | ENSP00000507329.1:n.759+13T>C | |
| ENST00000682214.1:c.510+13T>C | ENSP00000507336.1:n.510+13T>C | |
| ENST00000682499.1:n.1724+13T>C | ||
| ENST00000682541.1:c.903+13T>C | ENSP00000507673.1:n.903+13T>C | |
| ENST00000682687.1:c.903+13T>C | ENSP00000507945.1:n.903+13T>C | |
| ENST00000682727.1:c.903+13T>C | ENSP00000507393.1:n.903+13T>C | |
| ENST00000682876.1:c.1032+13T>C | ENSP00000508389.1:n.1032+13T>C | |
| ENST00000683098.1:c.803+2870T>C | ENSP00000507670.1:n.803+2870T>C | |
| ENST00000683258.1:c.*624+13T>C | ENSP00000507448.1:n.*624+13T>C | |
| ENST00000683339.1:c.687+13T>C | ENSP00000507758.1:n.687+13T>C | |
| ENST00000683403.1:c.814-96T>C | ENSP00000507896.1:n.814-96T>C | |
| ENST00000683429.1:c.510+13T>C | ENSP00000507697.1:n.510+13T>C | |
| ENST00000683665.1:c.903+13T>C | ENSP00000507068.1:n.903+13T>C | |
| ENST00000683789.1:c.789+13T>C | ENSP00000507012.1:n.789+13T>C | |
| ENST00000683847.1:n.747+13T>C | ||
| ENST00000683882.1:c.903+13T>C | ENSP00000506735.1:n.903+13T>C | |
| ENST00000684024.1:c.*574+13T>C | ENSP00000507175.1:n.*574+13T>C | |
| ENST00000684254.1:c.*629+13T>C | ENSP00000508001.1:n.*629+13T>C | |
| ENST00000684310.1:c.165+13T>C | ENSP00000507550.1:n.165+13T>C | |
| ENST00000684530.1:c.165+13T>C | ENSP00000507439.1:n.165+13T>C | |
| ENST00000684652.1:n.1905+13T>C | ||
| ENST00000340941.11:c.903+13T>C MANE Select | ENSP00000343657.6:n.903+13T>C | |
| ENST00000340941.10:c.903+13T>C | ENSP00000343657.6:n.903+13T>C | |
| ENST00000505435.3:n.254+13T>C | ||
| ENST00000505787.7:n.730T>C | ||
| ENST00000509358.6:c.903+13T>C | ENSP00000420994.2:n.903+13T>C | |
| ENST00000509539.2:c.228+13T>C | ENSP00000425474.2:n.228+13T>C | |
| ENST00000510895.6:n.517+13T>C | ||
| ENST00000512218.6:c.789+13T>C | ENSP00000423202.2:n.789+13T>C | |
| ENST00000629193.2:c.789+13T>C | ENSP00000486535.1:n.789+13T>C | |
| NM_022132.4:c.903+13T>C | NP_071415.1:n.903+13T>C | |
| XM_005248567.1:c.789+13T>C | XP_005248624.1:n.789+13T>C | |
| XM_011543528.1:c.903+13T>C | XP_011541830.1:n.903+13T>C | |
| XM_011543529.1:c.903+13T>C | XP_011541831.1:n.903+13T>C | |
| NM_001363147.1:c.789+13T>C | NP_001350076.1:n.789+13T>C | |
| XM_011543529.2:c.903+13T>C | XP_011541831.1:n.903+13T>C | |
| XM_017009688.1:c.903+13T>C | XP_016865177.1:n.903+13T>C | |
| XR_001742172.1:n.943+13T>C | ||
| NM_022132.5:c.903+13T>C MANE Select | NP_071415.1:n.903+13T>C |