gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2076174A>G , CM000671.2:g.2076174A>G | GRCh38 |
| NC_000009.11:g.2076174A>G , CM000671.1:g.2076174A>G | GRCh37 |
| NC_000009.10:g.2066174A>G | NCBI36 |
| NG_032162.1:g.65833A>G | |
| NG_032162.2:g.100885A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000637134.2:c.1936-55A>G | ENSP00000489667.2:n.1936-55A>G | |
| ENST00000704350.1:c.1576-55A>G | ENSP00000515861.1:n.1576-55A>G | |
| ENST00000704352.1:c.1173+21451A>G | ENSP00000515863.1:n.1173+21451A>G | |
| ENST00000704353.1:c.1173+21451A>G | ENSP00000515864.1:n.1173+21451A>G | |
| ENST00000704354.1:c.1920-55A>G | ||
| ENST00000704355.1:c.300-55A>G | ||
| ENST00000349721.8:c.1936-55A>G MANE Select | ENSP00000265773.5:n.1936-55A>G | |
| ENST00000357248.8:c.1936-55A>G | ENSP00000349788.2:n.1936-55A>G | |
| ENST00000635739.1:n.351-55A>G | ||
| ENST00000636233.1:n.36-55A>G | ||
| ENST00000636501.1:n.67-55A>G | ||
| ENST00000637371.1:n.49-55A>G | ||
| ENST00000349721.7:c.1936-55A>G | ENSP00000265773.5:n.1936-55A>G | |
| ENST00000357248.7:c.1936-55A>G | ENSP00000349788.2:n.1936-55A>G | |
| ENST00000382194.6:c.1936-55A>G | ENSP00000371629.1:n.1936-55A>G | |
| ENST00000382203.5:c.1936-55A>G | ENSP00000371638.1:n.1936-55A>G | |
| ENST00000450198.6:c.1936-55A>G | ENSP00000392081.2:n.1936-55A>G | |
| ENST00000634760.1:c.1936-55A>G | ENSP00000489256.1:n.1936-55A>G | |
| ENST00000635129.1:n.305-55A>G | ||
| NM_001289396.1:c.1936-55A>G | NP_001276325.1:n.1936-55A>G | |
| NM_001289397.1:c.1936-55A>G | NP_001276326.1:n.1936-55A>G | |
| NM_003070.4:c.1936-55A>G | NP_003061.3:n.1936-55A>G | |
| NM_139045.3:c.1936-55A>G | NP_620614.2:n.1936-55A>G | |
| NM_003070.5:c.1936-55A>G MANE Select | NP_003061.3:n.1936-55A>G | |
| NM_001289397.2:c.1936-55A>G | NP_001276326.1:n.1936-55A>G | |
| NM_139045.4:c.1936-55A>G | NP_620614.2:n.1936-55A>G |