Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119669866G>C , CM000672.2:g.119669866G>C | GRCh38 |
| NC_000010.10:g.121429378G>C , CM000672.1:g.121429378G>C | GRCh37 |
| NC_000010.9:g.121419368G>C | NCBI36 |
| NG_016125.1:g.23497G>C , LRG_742:g.23497G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.196G>C MANE Select | ENSP00000358081.4:p.Ala66Pro | |
| ENST00000369085.7:c.196G>C | ENSP00000358081.3:p.Ala66Pro | |
| ENST00000450186.1:c.22G>C | ENSP00000410036.1:p.Ala8Pro | |
| NM_004281.3:c.196G>C , LRG_742t1:c.196G>C | NP_004272.2:p.Ala66Pro | |
| XM_005270287.1:c.196G>C | XP_005270344.1:p.Ala66Pro | |
| XM_005270287.2:c.196G>C | XP_005270344.1:p.Ala66Pro | |
| NM_004281.4:c.196G>C MANE Select | NP_004272.2:p.Ala66Pro |