Linked Data
ClinVar Variation Id:
97666
ClinVar RCV Id:
RCV000083919
dbSNP Id:
rs104895274
ExAC:
12:6442997 C / T
gnomAD v2:
12-6442997-C-T
gnomAD v3:
12-6333831-C-T
gnomAD v4:
12-6333831-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333831C>T , CM000674.2:g.6333831C>T | GRCh38 |
| NC_000012.11:g.6442997C>T , CM000674.1:g.6442997C>T | GRCh37 |
| NC_000012.10:g.6313258C>T | NCBI36 |
| NG_007506.1:g.13265G>A , LRG_193:g.13265G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.262G>A | ||
| ENST00000437813.8:c.228G>A | ENSP00000513672.1:p.Gly76= | |
| ENST00000440083.7:c.228G>A | ENSP00000413224.3:p.Gly76= | |
| ENST00000535958.2:c.*55G>A | ENSP00000513673.1:n.*55G>A | |
| ENST00000698339.1:c.228G>A | ENSP00000513670.1:p.Gly76= | |
| ENST00000698340.1:c.228G>A | ENSP00000513671.1:p.Gly76= | |
| ENST00000162749.7:c.228G>A MANE Select | ENSP00000162749.2:p.Gly76= | |
| ENST00000162749.6:c.228G>A | ENSP00000162749.2:p.Gly76= | |
| ENST00000366159.8:c.228G>A | ENSP00000380389.3:p.Gly76= | |
| ENST00000437813.7:n.189G>A | ||
| ENST00000440083.6:c.228G>A | ENSP00000413224.2:p.Gly76= | |
| ENST00000534885.5:c.74G>A | ENSP00000441803.1:p.Gly25Asp | |
| ENST00000535958.1:n.474G>A | ||
| ENST00000536194.1:c.201G>A | ENSP00000442919.1:p.Gly67= | |
| ENST00000539372.5:c.228G>A | ENSP00000442059.1:p.Gly76= | |
| ENST00000540022.5:c.193+260G>A | ENSP00000438343.1:n.193+260G>A | |
| ENST00000543048.5:c.214+14G>A | ENSP00000439981.1:n.214+14G>A | |
| ENST00000543995.5:c.193+260G>A | ENSP00000442405.1:n.193+260G>A | |
| NM_001065.3:c.228G>A , LRG_193t1:c.228G>A | NP_001056.1:p.Gly76= | |
| NM_001346091.1:c.-97G>A | NP_001333020.1:n.-97G>A | |
| NM_001346092.1:c.-350G>A | NP_001333021.1:n.-350G>A | |
| NR_144351.1:n.531G>A | ||
| NM_001065.4:c.228G>A MANE Select | NP_001056.1:p.Gly76= | |
| NM_001346091.2:c.-97G>A | NP_001333020.1:n.-97G>A | |
| NM_001346092.2:c.-350G>A | NP_001333021.1:n.-350G>A | |
| NR_144351.2:n.490G>A |