Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17376006G>T , CM000685.2:g.17376006G>T | GRCh38 |
| NC_000023.10:g.17394129G>T , CM000685.1:g.17394129G>T | GRCh37 |
| NC_000023.9:g.17304050G>T | NCBI36 |
| NG_011553.2:g.5587G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676302.1:c.249G>T MANE Select | ENSP00000502262.1:p.Pro83= | |
| ENST00000380060.7:c.249G>T | ENSP00000369400.3:p.Pro83= | |
| NM_001291867.1:c.249G>T | NP_001278796.1:p.Pro83= | |
| NM_198270.3:c.249G>T | NP_938011.1:p.Pro83= | |
| NM_001291867.2:c.249G>T MANE Select | NP_001278796.1:p.Pro83= | |
| NM_198270.4:c.249G>T | NP_938011.1:p.Pro83= |