Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55110547G>T , CM000666.2:g.55110547G>T | GRCh38 |
| NC_000004.11:g.55976714G>T , CM000666.1:g.55976714G>T | GRCh37 |
| NC_000004.10:g.55671471G>T | NCBI36 |
| NG_012004.1:g.20049C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.1111C>A MANE Select | ENSP00000263923.4:p.Leu371Ile | |
| ENST00000647068.1:n.1124C>A | ||
| ENST00000263923.4:c.1111C>A | ENSP00000263923.4:p.Leu371Ile | |
| ENST00000512566.1:n.1111C>A | ||
| NM_002253.2:c.1111C>A | NP_002244.1:p.Leu371Ile | |
| NM_002253.3:c.1111C>A | NP_002244.1:p.Leu371Ile | |
| NM_002253.4:c.1111C>A MANE Select | NP_002244.1:p.Leu371Ile |