Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672369A>C , CM000672.2:g.119672369A>C | GRCh38 |
| NC_000010.10:g.121431881A>C , CM000672.1:g.121431881A>C | GRCh37 |
| NC_000010.9:g.121421871A>C | NCBI36 |
| NG_016125.1:g.26000A>C , LRG_742:g.26000A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.622A>C MANE Select | ENSP00000358081.4:p.Ile208Leu | |
| ENST00000369085.7:c.622A>C | ENSP00000358081.3:p.Ile208Leu | |
| ENST00000450186.1:c.448A>C | ENSP00000410036.1:p.Ile150Leu | |
| NM_004281.3:c.622A>C , LRG_742t1:c.622A>C | NP_004272.2:p.Ile208Leu | |
| XM_005270287.1:c.622A>C | XP_005270344.1:p.Ile208Leu | |
| XM_005270287.2:c.622A>C | XP_005270344.1:p.Ile208Leu | |
| NM_004281.4:c.622A>C MANE Select | NP_004272.2:p.Ile208Leu |