Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17375968C>T , CM000685.2:g.17375968C>T | GRCh38 |
| NC_000023.10:g.17394091C>T , CM000685.1:g.17394091C>T | GRCh37 |
| NC_000023.9:g.17304012C>T | NCBI36 |
| NG_011553.2:g.5549C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676302.1:c.211C>T MANE Select | ENSP00000502262.1:p.Pro71Ser | |
| ENST00000380060.7:c.211C>T | ENSP00000369400.3:p.Pro71Ser | |
| NM_001291867.1:c.211C>T | NP_001278796.1:p.Pro71Ser | |
| NM_198270.3:c.211C>T | NP_938011.1:p.Pro71Ser | |
| NM_001291867.2:c.211C>T MANE Select | NP_001278796.1:p.Pro71Ser | |
| NM_198270.4:c.211C>T | NP_938011.1:p.Pro71Ser |