gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404281T>G , CM000666.2:g.73404281T>G | GRCh38 |
| NC_000004.11:g.74269998T>G , CM000666.1:g.74269998T>G | GRCh37 |
| NC_000004.10:g.74488862T>G | NCBI36 |
| NG_009291.1:g.5027T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.8:c.-47T>G | ENSP00000295897.4:n.-47T>G | |
| ENST00000441319.5:c.48-88T>G | ENSP00000392541.1:n.48-88T>G | |
| ENST00000621628.4:c.-47T>G | ENSP00000480485.1:n.-47T>G | |
| NM_000477.5:c.-47T>G | NP_000468.1:n.-47T>G | |
| NM_000477.6:c.-47T>G | NP_000468.1:n.-47T>G |