Linked Data
ClinVar Variation Id:
161630
ClinVar RCV Id:
RCV000149166
dbSNP Id:
rs193920983
COSMIC:
COSM1178778
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42487368G>T , CM000679.2:g.42487368G>T | GRCh38 |
| NC_000017.10:g.40639386G>T , CM000679.1:g.40639386G>T | GRCh37 |
| NC_000017.9:g.37892912G>T | NCBI36 |
| NG_047037.1:g.33525G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586201.6:c.1023+1G>T | ENSP00000468177.2:n.1023+1G>T | |
| ENST00000588138.2:c.1023+1G>T | ENSP00000466852.2:n.1023+1G>T | |
| ENST00000588901.6:c.*746+1G>T | ENSP00000468001.1:n.*746+1G>T | |
| ENST00000589759.2:c.*912+1G>T | ENSP00000515532.1:n.*912+1G>T | |
| ENST00000592324.2:c.1146+1G>T | ENSP00000466767.2:n.1146+1G>T | |
| ENST00000703888.1:c.1167+1G>T | ENSP00000515525.1:n.1167+1G>T | |
| ENST00000703889.1:c.1044+1G>T | ENSP00000515526.1:n.1044+1G>T | |
| ENST00000703890.1:c.1023+1G>T | ENSP00000515527.1:n.1023+1G>T | |
| ENST00000703891.1:c.*718+1G>T | ENSP00000515528.1:n.*718+1G>T | |
| ENST00000703892.1:c.1044+1G>T | ENSP00000515529.1:n.1044+1G>T | |
| ENST00000703893.1:c.915+1G>T | ENSP00000515530.1:n.915+1G>T | |
| ENST00000703894.1:c.1044+1G>T | ENSP00000515531.1:n.1044+1G>T | |
| ENST00000703895.1:c.*721+1G>T | ENSP00000515533.1:n.*721+1G>T | |
| ENST00000703896.1:c.1026+1G>T | ENSP00000515534.1:n.1026+1G>T | |
| ENST00000703897.1:c.813+1G>T | ENSP00000515535.1:n.813+1G>T | |
| ENST00000703898.1:c.1023+1G>T | ENSP00000515536.1:n.1023+1G>T | |
| ENST00000703899.1:c.1023+1G>T | ENSP00000515537.1:n.1023+1G>T | |
| ENST00000703900.1:c.897+1G>T | ENSP00000515538.1:n.897+1G>T | |
| ENST00000703901.1:c.1023+1G>T | ENSP00000515539.1:n.1023+1G>T | |
| ENST00000703902.1:c.1023+1G>T | ENSP00000515540.1:n.1023+1G>T | |
| ENST00000343619.9:c.1023+1G>T MANE Select | ENSP00000342951.3:n.1023+1G>T | |
| ENST00000264649.10:c.1044+1G>T | ENSP00000264649.5:n.1044+1G>T | |
| ENST00000343619.8:c.1023+1G>T | ENSP00000342951.3:n.1023+1G>T | |
| ENST00000393829.6:c.1023+1G>T | ENSP00000377415.2:n.1023+1G>T | |
| ENST00000537728.5:c.894+1G>T | ENSP00000443991.1:n.894+1G>T | |
| ENST00000544137.5:c.-40+1G>T | ENSP00000446377.1:n.-40+1G>T | |
| ENST00000585525.5:c.894+1G>T | ENSP00000466878.1:n.894+1G>T | |
| ENST00000589759.1:n.380+1G>T | ||
| NM_001130020.1:c.1044+1G>T | NP_001123492.1:n.1044+1G>T | |
| NM_001130021.1:c.1023+1G>T | NP_001123493.1:n.1023+1G>T | |
| NM_005177.3:c.1023+1G>T | NP_005168.2:n.1023+1G>T | |
| XM_005257459.1:c.1044+1G>T | XP_005257516.1:n.1044+1G>T | |
| XM_005257461.1:c.1044+1G>T | XP_005257518.1:n.1044+1G>T | |
| XM_005257463.1:c.1044+1G>T | XP_005257520.1:n.1044+1G>T | |
| XM_011524908.1:c.1044+1G>T | XP_011523210.1:n.1044+1G>T | |
| XR_934483.1:n.1193+1G>T | ||
| XR_934484.1:n.1193+1G>T | ||
| XM_005257459.2:c.1044+1G>T | XP_005257516.1:n.1044+1G>T | |
| XM_005257461.2:c.1044+1G>T | XP_005257518.1:n.1044+1G>T | |
| XM_005257463.3:c.1044+1G>T | XP_005257520.1:n.1044+1G>T | |
| XM_011524908.2:c.1044+1G>T | XP_011523210.1:n.1044+1G>T | |
| XM_017024769.1:c.1023+1G>T | XP_016880258.1:n.1023+1G>T | |
| XM_017024770.1:c.1023+1G>T | XP_016880259.1:n.1023+1G>T | |
| XM_017024771.1:c.1023+1G>T | XP_016880260.1:n.1023+1G>T | |
| XM_017024772.2:c.255+1G>T | XP_016880261.1:n.255+1G>T | |
| XM_017024773.2:c.255+1G>T | XP_016880262.1:n.255+1G>T | |
| XM_017024774.2:c.255+1G>T | XP_016880263.1:n.255+1G>T | |
| XR_001752538.2:n.1181+1G>T | ||
| XR_001752539.1:n.1156+1G>T | ||
| XR_001752540.2:n.1181+1G>T | ||
| XR_002958025.1:n.1181+1G>T | ||
| XR_002958026.1:n.1156+1G>T | ||
| XR_002958027.1:n.1156+1G>T | ||
| XR_002958028.1:n.1156+1G>T | ||
| XR_002958029.1:n.1171+1G>T | ||
| XR_002958030.1:n.834+1G>T | ||
| XR_934483.3:n.1181+1G>T | ||
| XR_934484.3:n.1181+1G>T | ||
| NM_001130020.2:c.1044+1G>T | NP_001123492.1:n.1044+1G>T | |
| NM_001130021.2:c.1023+1G>T | NP_001123493.1:n.1023+1G>T | |
| NM_005177.4:c.1023+1G>T | NP_005168.2:n.1023+1G>T | |
| NM_001130020.3:c.1044+1G>T | NP_001123492.1:n.1044+1G>T | |
| NM_001130021.3:c.1023+1G>T MANE Select | NP_001123493.1:n.1023+1G>T | |
| NM_001378522.1:c.1044+1G>T | NP_001365451.1:n.1044+1G>T | |
| NM_001378523.1:c.1044+1G>T | NP_001365452.1:n.1044+1G>T | |
| NM_001378530.1:c.1146+1G>T | NP_001365459.1:n.1146+1G>T | |
| NM_001378531.1:c.1167+1G>T | NP_001365460.1:n.1167+1G>T | |
| NM_001378532.1:c.1167+1G>T | NP_001365461.1:n.1167+1G>T | |
| NM_001378533.1:c.1146+1G>T | NP_001365462.1:n.1146+1G>T | |
| NM_001378534.1:c.1044+1G>T | NP_001365463.1:n.1044+1G>T | |
| NM_001378535.1:c.1023+1G>T | NP_001365464.1:n.1023+1G>T | |
| NM_001378536.1:c.915+1G>T | NP_001365465.1:n.915+1G>T | |
| NM_001378537.1:c.1023+1G>T | NP_001365466.1:n.1023+1G>T | |
| NM_001378538.1:c.894+1G>T | NP_001365467.1:n.894+1G>T | |
| NM_001378539.1:c.1044+1G>T | NP_001365468.1:n.1044+1G>T | |
| NM_001378540.1:c.894+1G>T | NP_001365469.1:n.894+1G>T | |
| NM_001378541.1:c.1044+1G>T | NP_001365470.1:n.1044+1G>T | |
| NM_001378542.1:c.1023+1G>T | NP_001365471.1:n.1023+1G>T | |
| NM_001378543.1:c.864+1G>T | NP_001365472.1:n.864+1G>T | |
| NM_001378544.1:c.1023+1G>T | NP_001365473.1:n.1023+1G>T | |
| NM_001378545.1:c.813+1G>T | NP_001365474.1:n.813+1G>T | |
| NM_001378546.1:c.811-3119G>T | NP_001365475.1:n.811-3119G>T | |
| NM_001378547.1:c.811-3119G>T | NP_001365476.1:n.811-3119G>T | |
| NM_001378548.1:c.1023+1G>T | NP_001365477.1:n.1023+1G>T | |
| NM_001378549.1:c.843+1G>T | NP_001365478.1:n.843+1G>T | |
| NM_001378550.1:c.915+1G>T | NP_001365479.1:n.915+1G>T | |
| NM_001378551.1:c.1146+1G>T | NP_001365480.1:n.1146+1G>T | |
| NM_001378552.1:c.1146+1G>T | NP_001365481.1:n.1146+1G>T | |
| NM_001378554.1:c.813+1G>T | NP_001365483.1:n.813+1G>T | |
| NM_001378556.1:c.915+1G>T | NP_001365485.1:n.915+1G>T | |
| NM_001378557.1:c.1023+1G>T | NP_001365486.1:n.1023+1G>T | |
| NM_005177.5:c.1023+1G>T | NP_005168.2:n.1023+1G>T |