Linked Data
dbSNP Id:
rs369273283
ExAC:
12:6442413 G / C
gnomAD v2:
12-6442413-G-C
gnomAD v3:
12-6333247-G-C
gnomAD v4:
12-6333247-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333247G>C , CM000674.2:g.6333247G>C | GRCh38 |
| NC_000012.11:g.6442413G>C , CM000674.1:g.6442413G>C | GRCh37 |
| NC_000012.10:g.6312674G>C | NCBI36 |
| NG_007506.1:g.13849C>G , LRG_193:g.13849C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.507-100C>G | ||
| ENST00000437813.8:c.473-100C>G | ENSP00000513672.1:n.473-100C>G | |
| ENST00000440083.7:c.592C>G | ENSP00000413224.3:p.Leu198Val | |
| ENST00000535958.2:c.*300-100C>G | ENSP00000513673.1:n.*300-100C>G | |
| ENST00000698339.1:c.473-100C>G | ENSP00000513670.1:n.473-100C>G | |
| ENST00000698340.1:c.473-100C>G | ENSP00000513671.1:n.473-100C>G | |
| ENST00000162749.7:c.473-100C>G MANE Select | ENSP00000162749.2:n.473-100C>G | |
| ENST00000162749.6:c.473-100C>G | ENSP00000162749.2:n.473-100C>G | |
| ENST00000366159.8:c.473-100C>G | ENSP00000380389.3:n.473-100C>G | |
| ENST00000437813.7:n.434-100C>G | ||
| ENST00000440083.6:c.592C>G | ENSP00000413224.2:p.Leu198Val | |
| ENST00000534885.5:c.319-100C>G | ENSP00000441803.1:n.319-100C>G | |
| ENST00000537842.5:n.77-100C>G | ||
| ENST00000539372.5:c.473-100C>G | ENSP00000442059.1:n.473-100C>G | |
| ENST00000540022.5:c.344-100C>G | ENSP00000438343.1:n.344-100C>G | |
| ENST00000543048.5:c.*84-100C>G | ENSP00000439981.1:n.*84-100C>G | |
| ENST00000543995.5:c.*60-100C>G | ENSP00000442405.1:n.*60-100C>G | |
| NM_001065.3:c.473-100C>G , LRG_193t1:c.473-100C>G | NP_001056.1:n.473-100C>G | |
| NM_001346091.1:c.149-100C>G | NP_001333020.1:n.149-100C>G | |
| NM_001346092.1:c.-105-100C>G | NP_001333021.1:n.-105-100C>G | |
| NR_144351.1:n.776-100C>G | ||
| NM_001065.4:c.473-100C>G MANE Select | NP_001056.1:n.473-100C>G | |
| NM_001346091.2:c.149-100C>G | NP_001333020.1:n.149-100C>G | |
| NM_001346092.2:c.-105-100C>G | NP_001333021.1:n.-105-100C>G | |
| NR_144351.2:n.735-100C>G |