Linked Data
ClinVar Variation Id:
235852
ClinVar RCV Id:
RCV000224454
dbSNP Id:
rs878853148
PubMed:
PMID:25167861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54002150C>G , CM000685.2:g.54002150C>G | GRCh38 |
| NC_000023.10:g.54028583C>G , CM000685.1:g.54028583C>G | GRCh37 |
| NC_000023.9:g.54045308C>G | NCBI36 |
| NG_021309.1:g.47987G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338946.11:c.1141+5G>C | ENSP00000340051.7:n.1141+5G>C | |
| ENST00000396282.7:c.1141+5G>C | ENSP00000379578.3:n.1141+5G>C | |
| ENST00000686349.1:c.1141+5G>C | ENSP00000510424.1:n.1141+5G>C | |
| ENST00000687764.1:c.1141+5G>C | ENSP00000509967.1:n.1141+5G>C | |
| ENST00000691629.1:n.505+5G>C | ||
| ENST00000338154.11:c.1141+5G>C MANE Select | ENSP00000338868.6:n.1141+5G>C | |
| ENST00000322659.12:c.1141+5G>C | ENSP00000319473.8:n.1141+5G>C | |
| ENST00000338154.10:c.1141+5G>C | ENSP00000338868.6:n.1141+5G>C | |
| ENST00000338946.10:c.1141+5G>C | ENSP00000340051.6:n.1141+5G>C | |
| ENST00000357988.9:c.1249+5G>C | ENSP00000350676.5:n.1249+5G>C | |
| ENST00000396282.6:c.852+5G>C | ||
| ENST00000413386.5:c.277+5G>C | ENSP00000388796.1:n.277+5G>C | |
| ENST00000443302.5:c.431+5G>C | ||
| ENST00000448003.1:c.183+5G>C | ||
| ENST00000490635.1:n.475+5G>C | ||
| ENST00000615775.4:c.-432+5G>C | ENSP00000482159.1:n.-432+5G>C | |
| NM_001184896.1:c.1249+5G>C | NP_001171825.1:n.1249+5G>C | |
| NM_001184897.1:c.1141+5G>C | NP_001171826.1:n.1141+5G>C | |
| NM_001184898.1:c.1141+5G>C | NP_001171827.1:n.1141+5G>C | |
| NM_015107.2:c.1141+5G>C | NP_055922.1:n.1141+5G>C | |
| XM_005261996.1:c.1249+5G>C | XP_005262053.1:n.1249+5G>C | |
| XM_005261997.2:c.1141+5G>C | XP_005262054.1:n.1141+5G>C | |
| XM_005261999.1:c.1141+5G>C | XP_005262056.1:n.1141+5G>C | |
| XM_005262000.1:c.1249+5G>C | XP_005262057.1:n.1249+5G>C | |
| XM_006724585.1:c.1249+5G>C | XP_006724648.1:n.1249+5G>C | |
| XM_011530778.1:c.1249+5G>C | XP_011529080.1:n.1249+5G>C | |
| XM_005261997.4:c.1141+5G>C | XP_005262054.1:n.1141+5G>C | |
| XM_017029361.2:c.1141+5G>C | XP_016884850.1:n.1141+5G>C | |
| XM_017029362.2:c.1141+5G>C | XP_016884851.1:n.1141+5G>C | |
| NM_001184898.2:c.1141+5G>C | NP_001171827.1:n.1141+5G>C | |
| NM_015107.3:c.1141+5G>C MANE Select | NP_055922.1:n.1141+5G>C | |
| NM_001184897.2:c.1141+5G>C | NP_001171826.1:n.1141+5G>C |