Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.[240868897C>T;240875994T>C] , CM000664.2:g.[240868897C>T;240875994T>C] | GRCh38 |
| NC_000002.11:g.[241808314C>T;241815411T>C] , CM000664.1:g.[241808314C>T;241815411T>C] | GRCh37 |
| NC_000002.10:g.[241456987C>T;241464084T>C] | NCBI36 |
| NG_008005.1:g.[5153C>T;12250T>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.[32C>T;836T>C] MANE Select | ENSP00000302620.3:p.[Pro11Leu;Ile279Thr] | |
| ENST00000307503.3:c.[32C>T;836T>C] | ENSP00000302620.3:p.[Pro11Leu;Ile279Thr] | |
| NM_000030.2:c.[32C>T;836T>C] | NP_000021.1:p.[Pro11Leu;Ile279Thr] | |
| NM_000030.3:c.[32C>T;836T>C] MANE Select | NP_000021.1:p.[Pro11Leu;Ile279Thr] |