Linked Data
ClinVar Variation Id:
310107
dbSNP Id:
rs201683984
ExAC:
12:6438736 G / A
gnomAD v2:
12-6438736-G-A
gnomAD v3:
12-6329570-G-A
gnomAD v4:
12-6329570-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6329570G>A , CM000674.2:g.6329570G>A | GRCh38 |
| NC_000012.11:g.6438736G>A , CM000674.1:g.6438736G>A | GRCh37 |
| NC_000012.10:g.6308997G>A | NCBI36 |
| NG_007506.1:g.17526C>T , LRG_193:g.17526C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.2211C>T | ||
| ENST00000437813.8:c.*571C>T | ENSP00000513672.1:n.*571C>T | |
| ENST00000440083.7:c.1329C>T | ENSP00000413224.3:p.Arg443= | |
| ENST00000535958.2:c.*937C>T | ENSP00000513673.1:n.*937C>T | |
| ENST00000698337.1:n.1071C>T | ||
| ENST00000698338.1:n.1724C>T | ||
| ENST00000698339.1:c.*605C>T | ENSP00000513670.1:n.*605C>T | |
| ENST00000698340.1:c.*349C>T | ENSP00000513671.1:n.*349C>T | |
| ENST00000162749.7:c.1110C>T MANE Select | ENSP00000162749.2:p.Arg370= | |
| ENST00000162749.6:c.1110C>T | ENSP00000162749.2:p.Arg370= | |
| ENST00000534885.5:c.*587C>T | ENSP00000441803.1:n.*587C>T | |
| ENST00000536717.5:n.1014C>T | ||
| ENST00000540022.5:c.981C>T | ENSP00000438343.1:p.Arg327= | |
| ENST00000543359.5:n.522C>T | ||
| ENST00000543995.5:c.*697C>T | ENSP00000442405.1:n.*697C>T | |
| NM_001065.3:c.1110C>T , LRG_193t1:c.1110C>T | NP_001056.1:p.Arg370= | |
| NM_001346091.1:c.786C>T | NP_001333020.1:p.Arg262= | |
| NM_001346092.1:c.651C>T | NP_001333021.1:p.Arg217= | |
| NR_144351.1:n.1339C>T | ||
| NM_001065.4:c.1110C>T MANE Select | NP_001056.1:p.Arg370= | |
| NM_001346091.2:c.786C>T | NP_001333020.1:p.Arg262= | |
| NM_001346092.2:c.651C>T | NP_001333021.1:p.Arg217= | |
| NR_144351.2:n.1298C>T |