Linked Data
ClinVar Variation Id:
97671
dbSNP Id:
rs104895265
ExAC:
12:6442976 C / T
gnomAD v2:
12-6442976-C-T
gnomAD v3:
12-6333810-C-T
gnomAD v4:
12-6333810-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333810C>T , CM000674.2:g.6333810C>T | GRCh38 |
| NC_000012.11:g.6442976C>T , CM000674.1:g.6442976C>T | GRCh37 |
| NC_000012.10:g.6313237C>T | NCBI36 |
| NG_007506.1:g.13286G>A , LRG_193:g.13286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.283G>A | ||
| ENST00000437813.8:c.249G>A | ENSP00000513672.1:p.Glu83= | |
| ENST00000440083.7:c.249G>A | ENSP00000413224.3:p.Glu83= | |
| ENST00000535958.2:c.*76G>A | ENSP00000513673.1:n.*76G>A | |
| ENST00000698339.1:c.249G>A | ENSP00000513670.1:p.Glu83= | |
| ENST00000698340.1:c.249G>A | ENSP00000513671.1:p.Glu83= | |
| ENST00000162749.7:c.249G>A MANE Select | ENSP00000162749.2:p.Glu83= | |
| ENST00000162749.6:c.249G>A | ENSP00000162749.2:p.Glu83= | |
| ENST00000366159.8:c.249G>A | ENSP00000380389.3:p.Glu83= | |
| ENST00000437813.7:n.210G>A | ||
| ENST00000440083.6:c.249G>A | ENSP00000413224.2:p.Glu83= | |
| ENST00000534885.5:c.95G>A | ENSP00000441803.1:p.Ser32Asn | |
| ENST00000535958.1:n.495G>A | ||
| ENST00000536194.1:c.222G>A | ENSP00000442919.1:p.Glu74= | |
| ENST00000539372.5:c.249G>A | ENSP00000442059.1:p.Glu83= | |
| ENST00000540022.5:c.193+281G>A | ENSP00000438343.1:n.193+281G>A | |
| ENST00000543048.5:c.214+35G>A | ENSP00000439981.1:n.214+35G>A | |
| ENST00000543995.5:c.193+281G>A | ENSP00000442405.1:n.193+281G>A | |
| NM_001065.3:c.249G>A , LRG_193t1:c.249G>A | NP_001056.1:p.Glu83= | |
| NM_001346091.1:c.-76G>A | NP_001333020.1:n.-76G>A | |
| NM_001346092.1:c.-329G>A | NP_001333021.1:n.-329G>A | |
| NR_144351.1:n.552G>A | ||
| NM_001065.4:c.249G>A MANE Select | NP_001056.1:p.Glu83= | |
| NM_001346091.2:c.-76G>A | NP_001333020.1:n.-76G>A | |
| NM_001346092.2:c.-329G>A | NP_001333021.1:n.-329G>A | |
| NR_144351.2:n.511G>A |