Linked Data
ClinVar Variation Id:
217588
ClinVar RCV Id:
RCV000201749
dbSNP Id:
rs863225154
COSMIC:
COSM127087
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37122429C>A , CM000667.2:g.37122429C>A | GRCh38 |
| NC_000005.9:g.37122531C>A , CM000667.1:g.37122531C>A | GRCh37 |
| NC_000005.8:g.37158288C>A | NCBI36 |
| NG_032772.1:g.132000G>T | |
| NG_032772.2:g.132000G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651892.2:c.9017+1G>T MANE Select | ENSP00000498265.2:n.9017+1G>T | |
| ENST00000676160.1:n.879G>T | ||
| ENST00000425232.6:c.8855+1G>T | ENSP00000389014.2:n.8855+1G>T | |
| ENST00000508244.5:c.8855+1G>T | ENSP00000421690.1:n.8855+1G>T | |
| ENST00000509849.5:c.6029+1G>T | ENSP00000426337.1:n.6029+1G>T | |
| ENST00000512288.5:n.342-645G>T | ||
| ENST00000514429.5:c.6053+1G>T | ENSP00000424223.1:n.6053+1G>T | |
| NM_023073.3:c.8855+1G>T | NP_075561.3:n.8855+1G>T | |
| XM_005248345.2:c.9017+1G>T | XP_005248402.1:n.9017+1G>T | |
| XM_005248346.2:c.9014+1G>T | XP_005248403.1:n.9014+1G>T | |
| XM_005248347.2:c.9014+1G>T | XP_005248404.1:n.9014+1G>T | |
| XM_005248349.2:c.8906+1G>T | XP_005248406.1:n.8906+1G>T | |
| XM_005248350.2:c.8888+1G>T | XP_005248407.1:n.8888+1G>T | |
| XM_005248353.3:c.5660+1G>T | XP_005248410.1:n.5660+1G>T | |
| XM_006714489.2:c.9017+1G>T | XP_006714552.1:n.9017+1G>T | |
| XM_006714491.2:c.3590+1G>T | XP_006714554.1:n.3590+1G>T | |
| XM_011514085.1:c.9017+1G>T | XP_011512387.1:n.9017+1G>T | |
| XM_011514086.1:c.9017+1G>T | XP_011512388.1:n.9017+1G>T | |
| XM_011514087.1:c.8963+1G>T | XP_011512389.1:n.8963+1G>T | |
| XM_011514088.1:c.8909+1G>T | XP_011512390.1:n.8909+1G>T | |
| XM_011514089.1:c.9017+1G>T | XP_011512391.1:n.9017+1G>T | |
| XM_011514090.1:c.8699+1G>T | XP_011512392.1:n.8699+1G>T | |
| XM_011514091.1:c.8345+1G>T | XP_011512393.1:n.8345+1G>T | |
| XM_011514092.1:c.9017+1G>T | XP_011512394.1:n.9017+1G>T | |
| XM_011514094.1:c.6242+1G>T | XP_011512396.1:n.6242+1G>T | |
| XR_427661.2:n.9192+1G>T | ||
| XR_925644.1:n.9192+1G>T | ||
| XM_005248345.4:c.9017+1G>T | XP_005248402.1:n.9017+1G>T | |
| XM_005248346.4:c.9014+1G>T | XP_005248403.1:n.9014+1G>T | |
| XM_005248347.4:c.9014+1G>T | XP_005248404.1:n.9014+1G>T | |
| XM_005248349.4:c.8906+1G>T | XP_005248406.1:n.8906+1G>T | |
| XM_005248350.4:c.8888+1G>T | XP_005248407.1:n.8888+1G>T | |
| XM_006714491.3:c.3590+1G>T | XP_006714554.1:n.3590+1G>T | |
| XM_011514085.3:c.9017+1G>T | XP_011512387.1:n.9017+1G>T | |
| XM_011514086.3:c.9017+1G>T | XP_011512388.1:n.9017+1G>T | |
| XM_011514087.2:c.8963+1G>T | XP_011512389.1:n.8963+1G>T | |
| XM_011514088.2:c.8909+1G>T | XP_011512390.1:n.8909+1G>T | |
| XM_011514089.2:c.9017+1G>T | XP_011512391.1:n.9017+1G>T | |
| XM_011514090.3:c.8699+1G>T | XP_011512392.1:n.8699+1G>T | |
| XM_011514092.2:c.9017+1G>T | XP_011512394.1:n.9017+1G>T | |
| XM_011514094.2:c.6242+1G>T | XP_011512396.1:n.6242+1G>T | |
| XM_017009760.1:c.8828+1G>T | XP_016865249.1:n.8828+1G>T | |
| XM_017009761.2:c.8828+1G>T | XP_016865250.1:n.8828+1G>T | |
| XM_017009763.1:c.8024+1G>T | XP_016865252.1:n.8024+1G>T | |
| XM_017009765.1:c.7829+1G>T | XP_016865254.1:n.7829+1G>T | |
| XM_017009766.1:c.5660+1G>T | XP_016865255.1:n.5660+1G>T | |
| XM_024446183.1:c.8828+1G>T | XP_024301951.1:n.8828+1G>T | |
| XM_024446184.1:c.8699+1G>T | XP_024301952.1:n.8699+1G>T | |
| XM_024446185.1:c.8345+1G>T | XP_024301953.1:n.8345+1G>T | |
| XM_024446186.1:c.8024+1G>T | XP_024301954.1:n.8024+1G>T | |
| XR_925644.2:n.9241+1G>T | ||
| NM_001384732.1:c.9017+1G>T MANE Select | NP_001371661.1:n.9017+1G>T | |
| NM_023073.4:c.8855+1G>T | NP_075561.3:n.8855+1G>T |