Linked Data
ClinVar Variation Id:
50317
ClinVar RCV Id:
RCV001249675
dbSNP Id:
rs118161496
ExAC:
14:32319298 T / C
gnomAD v2:
14-32319298-T-C
gnomAD v3:
14-31850092-T-C
gnomAD v4:
14-31850092-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31850092T>C , CM000676.2:g.31850092T>C | GRCh38 |
| NC_000014.8:g.32319298T>C , CM000676.1:g.32319298T>C | GRCh37 |
| NC_000014.7:g.31389049T>C | NCBI36 |
| NG_028349.1:g.293708T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281081.12:c.815-27T>C MANE Select | ENSP00000281081.7:n.815-27T>C | |
| ENST00000281081.11:c.815-27T>C | ENSP00000281081.7:n.815-27T>C | |
| ENST00000418681.6:n.537-27T>C | ||
| ENST00000547839.5:c.*199-27T>C | ENSP00000449918.1:n.*199-27T>C | |
| ENST00000550649.5:c.413-27T>C | ENSP00000447618.1:n.413-27T>C | |
| ENST00000551015.1:n.574T>C | ||
| ENST00000552888.1:n.2849-27T>C | ||
| NM_001201573.1:c.527-27T>C | NP_001188502.1:n.527-27T>C | |
| NM_001201574.1:c.266-27T>C | NP_001188503.1:n.266-27T>C | |
| NM_025152.2:c.815-27T>C | NP_079428.2:n.815-27T>C | |
| NR_120408.1:n.776-27T>C | ||
| XM_011537181.1:c.500-27T>C | XP_011535483.1:n.500-27T>C | |
| XM_011537182.1:c.425-27T>C | XP_011535484.1:n.425-27T>C | |
| XM_011537184.1:c.266-27T>C | XP_011535486.1:n.266-27T>C | |
| XM_011537181.2:c.500-27T>C | XP_011535483.1:n.500-27T>C | |
| XM_011537182.2:c.425-27T>C | XP_011535484.1:n.425-27T>C | |
| XM_011537184.3:c.266-27T>C | XP_011535486.1:n.266-27T>C | |
| XM_017021667.1:c.392-27T>C | XP_016877156.1:n.392-27T>C | |
| NM_025152.3:c.815-27T>C MANE Select | NP_079428.2:n.815-27T>C | |
| NR_120408.2:n.757-27T>C | ||
| NM_001201573.2:c.527-27T>C | NP_001188502.1:n.527-27T>C | |
| NM_001201574.2:c.266-27T>C | NP_001188503.1:n.266-27T>C |