Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113062235C>T , CM000664.2:g.113062235C>T | GRCh38 |
| NC_000002.11:g.113819812C>T , CM000664.1:g.113819812C>T | GRCh37 |
| NC_000002.10:g.113536283C>T | NCBI36 |
| NG_031864.1:g.8598C>T , LRG_730:g.8598C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012275.3:c.227C>T MANE Select | NP_036407.1:p.Pro76Leu |
| ENST00000393200.7:c.227C>T MANE Select | ENSP00000376896.2:p.Pro76Leu |
| NM_012275.2:c.227C>T , LRG_730t2:c.227C>T | NP_036407.1:p.Pro76Leu |
| NM_173170.1:c.227C>T , LRG_730t1:c.227C>T | NP_775262.1:p.Pro76Leu |
| ENST00000346807.7:c.227C>T | ENSP00000259212.3:p.Pro76Leu |
| ENST00000393200.6:c.227C>T | ENSP00000376896.2:p.Pro76Leu |
| ENST00000437409.1:c.227C>T | ENSP00000409262.1:p.Pro76Leu |
| ENST00000437409.2:c.227C>T | ENSP00000409262.2:p.Pro76Leu |