Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.[94077713G>A;94080705G>A] , CM000663.2:g.[94077713G>A;94080705G>A] | GRCh38 |
| NC_000001.10:g.[94543269G>A;94546261G>A] , CM000663.1:g.[94543269G>A;94546261G>A] | GRCh37 |
| NC_000001.9:g.[94315857G>A;94318849G>A] | NCBI36 |
| NG_009073.1:g.[45445C>T;48437C>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.[872C>T;1531C>T] MANE Select | ENSP00000359245.3:p.[Pro291Leu;Arg511Cys] | |
| ENST00000649773.1:c.[872C>T;1531C>T] | ENSP00000496882.1:p.[Pro291Leu;Arg511Cys] | |
| ENST00000370225.3:c.[872C>T;1531C>T] | ENSP00000359245.3:p.[Pro291Leu;Arg511Cys] | |
| NM_000350.2:c.[872C>T;1531C>T] | NP_000341.2:p.[Pro291Leu;Arg511Cys] | |
| NM_000350.3:c.[872C>T;1531C>T] MANE Select | NP_000341.2:p.[Pro291Leu;Arg511Cys] |