Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75565229A>G , CM000664.2:g.75565229A>G | GRCh38 |
| NC_000002.11:g.75792355A>G , CM000664.1:g.75792355A>G | GRCh37 |
| NC_000002.10:g.75645863A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233712.5:c.-192+4247T>C | ENSP00000233712.1:n.-192+4247T>C | |
| ENST00000486696.1:n.223+4247T>C | ||
| NM_032181.2:c.-192+4247T>C | NP_115557.1:n.-192+4247T>C | |
| NM_032181.3:c.-192+4247T>C | NP_115557.1:n.-192+4247T>C |