Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56345972T>C , CM000668.2:g.56345972T>C | GRCh38 |
| NC_000006.11:g.56210770T>C , CM000668.1:g.56210770T>C | GRCh37 |
| NC_000006.10:g.56318729T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370819.5:c.-39+47999A>G | ENSP00000359855.1:n.-39+47999A>G | |
| XM_011514924.1:c.-39+47999A>G | XP_011513226.1:n.-39+47999A>G | |
| NM_001318752.1:c.-39+47999A>G | NP_001305681.1:n.-39+47999A>G | |
| XM_011514924.2:c.-39+47999A>G | XP_011513226.1:n.-39+47999A>G | |
| NM_001318752.2:c.-39+47999A>G | NP_001305681.1:n.-39+47999A>G |