Linked Data
dbSNP Id:
rs1274326761
gnomAD v2:
14-64877596-C-A
gnomAD v3:
14-64410878-C-A
gnomAD v4:
14-64410878-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64410878C>A , CM000676.2:g.64410878C>A | GRCh38 |
| NC_000014.8:g.64877596C>A , CM000676.1:g.64877596C>A | GRCh37 |
| NC_000014.7:g.63947349C>A | NCBI36 |
| NG_012450.1:g.27838C>A | |
| NG_012450.2:g.27838C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555858.2:n.276-212C>A | ||
| ENST00000557539.2:c.-117-212C>A | ENSP00000476468.2:n.-117-212C>A | |
| ENST00000697166.1:n.276-212C>A | ||
| ENST00000697167.1:c.127-212C>A | ENSP00000513155.1:n.127-212C>A | |
| ENST00000697168.1:c.127-212C>A | ENSP00000513156.1:n.127-212C>A | |
| ENST00000697169.1:c.127-212C>A | ENSP00000513157.1:n.127-212C>A | |
| ENST00000697170.1:n.276-212C>A | ||
| ENST00000697171.1:c.127-212C>A | ENSP00000513158.1:n.127-212C>A | |
| ENST00000697173.1:c.-117-212C>A | ENSP00000513159.1:n.-117-212C>A | |
| ENST00000697174.1:c.127-212C>A | ENSP00000513160.1:n.127-212C>A | |
| ENST00000697175.1:c.-253-212C>A | ENSP00000513161.1:n.-253-212C>A | |
| ENST00000697176.1:c.-117-212C>A | ENSP00000513162.1:n.-117-212C>A | |
| ENST00000545908.6:c.127-212C>A | ENSP00000438588.2:n.127-212C>A | |
| ENST00000554768.6:c.-117-212C>A | ENSP00000477501.2:n.-117-212C>A | |
| ENST00000555709.7:c.127-212C>A | ENSP00000450560.3:n.127-212C>A | |
| ENST00000557370.3:c.127-212C>A | ENSP00000477199.2:n.127-212C>A | |
| ENST00000650853.1:n.202-212C>A | ||
| ENST00000651537.1:c.127-212C>A | ENSP00000498511.1:n.127-212C>A | |
| ENST00000652179.1:c.-117-212C>A | ENSP00000498649.1:n.-117-212C>A | |
| ENST00000652337.1:c.127-212C>A MANE Select | ENSP00000498336.1:n.127-212C>A | |
| ENST00000216605.12:c.127-212C>A | ENSP00000216605.8:n.127-212C>A | |
| ENST00000545908.5:c.295-212C>A | ENSP00000438588.1:n.295-212C>A | |
| ENST00000554739.5:c.-117-212C>A | ENSP00000477359.1:n.-117-212C>A | |
| ENST00000554768.5:c.-117-212C>A | ENSP00000477501.1:n.-117-212C>A | |
| ENST00000555252.5:n.244-1594C>A | ||
| ENST00000555709.6:c.295-212C>A | ENSP00000450560.2:n.295-212C>A | |
| ENST00000557539.1:c.-117-212C>A | ENSP00000476468.1:n.-117-212C>A | |
| NM_005956.3:c.127-212C>A | NP_005947.3:n.127-212C>A | |
| NM_001364837.1:c.127-212C>A | NP_001351766.1:n.127-212C>A | |
| NM_005956.4:c.127-212C>A MANE Select | NP_005947.3:n.127-212C>A |