gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143673062T>G , CM000668.2:g.143673062T>G | GRCh38 |
| NC_000006.11:g.143994199T>G , CM000668.1:g.143994199T>G | GRCh37 |
| NC_000006.10:g.144035892T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305766.10:c.14-38954T>G | ENSP00000305530.6:n.14-38954T>G | |
| ENST00000367584.8:c.218-38954T>G | ENSP00000356556.4:n.218-38954T>G | |
| ENST00000427704.6:c.14-38954T>G | ENSP00000391763.2:n.14-38954T>G | |
| NM_001100166.1:c.14-38954T>G | NP_001093636.1:n.14-38954T>G | |
| NM_014721.2:c.14-38954T>G | NP_055536.2:n.14-38954T>G | |
| NM_001100166.2:c.14-38954T>G | NP_001093636.1:n.14-38954T>G | |
| NM_014721.3:c.14-38954T>G | NP_055536.2:n.14-38954T>G | |
| NM_001394736.1:c.218-38954T>G | NP_001381665.1:n.218-38954T>G | |
| NM_001394738.1:c.14-38954T>G | NP_001381667.1:n.14-38954T>G | |
| NR_172204.1:n.144-38954T>G |