Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007869C= , CM000666.2:g.88007869C= | GRCh38 |
| NC_000004.11:g.88929021C= , CM000666.1:g.88929021C= | GRCh37 |
| NC_000004.10:g.89148045C= | NCBI36 |
| NG_008604.1:g.5202C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.136C= MANE Select | ENSP00000237596.2:p.Leu46= | |
| ENST00000237596.6:c.136C= | ENSP00000237596.2:p.Leu46= | |
| NM_000297.3:c.136C= | NP_000288.1:p.Leu46= | |
| XM_011532028.1:c.136C= | XP_011530330.1:p.Leu46= | |
| XR_244632.2:n.231C= | ||
| NR_156488.1:n.223C= | ||
| XM_011532028.2:c.136C= | XP_011530330.1:p.Leu46= | |
| NM_000297.4:c.136C= MANE Select | NP_000288.1:p.Leu46= | |
| NR_156488.2:n.235C= |