ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641115C>A , CM000678.2:g.23641115C>A | GRCh38 |
| NC_000016.9:g.23652436C>A , CM000678.1:g.23652436C>A | GRCh37 |
| NC_000016.8:g.23559937C>A | NCBI36 |
| NG_007406.1:g.5243G>T , LRG_308:g.5243G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.-810G>T | ENSP00000460666.3:n.-810G>T | |
| ENST00000565038.2:c.43G>T | ENSP00000459882.2:p.Glu15Ter | |
| ENST00000566069.6:c.43G>T | ENSP00000459237.2:p.Glu15Ter | |
| ENST00000697377.2:c.-197G>T | ENSP00000513286.2:n.-197G>T | |
| ENST00000697379.2:c.-103G>T | ENSP00000513287.2:n.-103G>T | |
| ENST00000561514.2:c.-1701G>T | ENSP00000460666.2:n.-1701G>T | |
| ENST00000697374.1:c.-1292G>T | ENSP00000513284.1:n.-1292G>T | |
| ENST00000697376.1:c.-1013G>T | ENSP00000513285.1:n.-1013G>T | |
| ENST00000697377.1:c.-1088G>T | ENSP00000513286.1:n.-1088G>T | |
| ENST00000697379.1:c.-994G>T | ENSP00000513287.1:n.-994G>T | |
| ENST00000697382.1:c.-1752G>T | ENSP00000513288.1:n.-1752G>T | |
| ENST00000697383.1:c.43G>T | ENSP00000513289.1:p.Glu15Ter | |
| ENST00000697384.1:n.197G>T | ||
| ENST00000261584.9:c.43G>T MANE Select | ENSP00000261584.4:p.Glu15Ter | |
| ENST00000261584.8:c.43G>T | ENSP00000261584.4:p.Glu15Ter | |
| ENST00000567003.1:n.187G>T | ||
| ENST00000568219.5:c.-838+12G>T | ENSP00000454703.2:n.-838+12G>T | |
| NM_024675.3:c.43G>T , LRG_308t1:c.43G>T | NP_078951.2:p.Glu15Ter | |
| XM_011545948.1:c.-977G>T | XP_011544250.1:n.-977G>T | |
| XM_011545946.2:c.-810G>T | XP_011544248.1:n.-810G>T | |
| XM_011545947.2:c.-810G>T | XP_011544249.1:n.-810G>T | |
| XM_011545948.2:c.-977G>T | XP_011544250.1:n.-977G>T | |
| XM_017023671.1:c.-810G>T | XP_016879160.1:n.-810G>T | |
| XM_017023672.2:c.43G>T | XP_016879161.1:p.Glu15Ter | |
| XM_017023673.2:c.43G>T | XP_016879162.1:p.Glu15Ter | |
| NM_024675.4:c.43G>T MANE Select | NP_078951.2:p.Glu15Ter |