Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189009175T>C , CM000664.2:g.189009175T>C | GRCh38 |
| NC_000002.11:g.189873901T>C , CM000664.1:g.189873901T>C | GRCh37 |
| NC_000002.10:g.189582146T>C | NCBI36 |
| NG_007404.1:g.39803T>C , LRG_3:g.39803T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3678T>C | ENSP00000415346.2:p.Ala1226= | |
| ENST00000304636.9:c.3777T>C MANE Select | ENSP00000304408.4:p.Ala1259= | |
| ENST00000304636.7:c.3777T>C | ENSP00000304408.3:p.Ala1259= | |
| ENST00000317840.9:c.2868T>C | ENSP00000315243.6:p.Ala956= | |
| ENST00000487010.1:n.874T>C | ||
| NM_000090.3:c.3777T>C , LRG_3t1:c.3777T>C | NP_000081.1:p.Ala1259= | |
| NM_000090.4:c.3777T>C MANE Select | NP_000081.2:p.Ala1259= |