Linked Data
dbSNP Id:
rs755815269
ExAC:
12:6442933 G / T
gnomAD v2:
12-6442933-G-T
gnomAD v4:
12-6333767-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333767G>T , CM000674.2:g.6333767G>T | GRCh38 |
| NC_000012.11:g.6442933G>T , CM000674.1:g.6442933G>T | GRCh37 |
| NC_000012.10:g.6313194G>T | NCBI36 |
| NG_007506.1:g.13329C>A , LRG_193:g.13329C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366159.9:n.326C>A | ||
| ENST00000437813.8:c.292C>A | ENSP00000513672.1:p.His98Asn | |
| ENST00000440083.7:c.292C>A | ENSP00000413224.3:p.His98Asn | |
| ENST00000535958.2:c.*119C>A | ENSP00000513673.1:n.*119C>A | |
| ENST00000698339.1:c.292C>A | ENSP00000513670.1:p.His98Asn | |
| ENST00000698340.1:c.292C>A | ENSP00000513671.1:p.His98Asn | |
| ENST00000162749.7:c.292C>A MANE Select | ENSP00000162749.2:p.His98Asn | |
| ENST00000162749.6:c.292C>A | ENSP00000162749.2:p.His98Asn | |
| ENST00000366159.8:c.292C>A | ENSP00000380389.3:p.His98Asn | |
| ENST00000437813.7:n.253C>A | ||
| ENST00000440083.6:c.292C>A | ENSP00000413224.2:p.His98Asn | |
| ENST00000534885.5:c.138C>A | ENSP00000441803.1:p.Asp46Glu | |
| ENST00000535958.1:n.538C>A | ||
| ENST00000536194.1:c.265C>A | ENSP00000442919.1:p.His89Asn | |
| ENST00000539372.5:c.292C>A | ENSP00000442059.1:p.His98Asn | |
| ENST00000540022.5:c.194-251C>A | ENSP00000438343.1:n.194-251C>A | |
| ENST00000543048.5:c.214+78C>A | ENSP00000439981.1:n.214+78C>A | |
| ENST00000543995.5:c.194-316C>A | ENSP00000442405.1:n.194-316C>A | |
| NM_001065.3:c.292C>A , LRG_193t1:c.292C>A | NP_001056.1:p.His98Asn | |
| NM_001346091.1:c.-33C>A | NP_001333020.1:n.-33C>A | |
| NM_001346092.1:c.-286C>A | NP_001333021.1:n.-286C>A | |
| NR_144351.1:n.595C>A | ||
| NM_001065.4:c.292C>A MANE Select | NP_001056.1:p.His98Asn | |
| NM_001346091.2:c.-33C>A | NP_001333020.1:n.-33C>A | |
| NM_001346092.2:c.-286C>A | NP_001333021.1:n.-286C>A | |
| NR_144351.2:n.554C>A |