Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189004307T>C , CM000664.2:g.189004307T>C | GRCh38 |
| NC_000002.11:g.189869033T>C , CM000664.1:g.189869033T>C | GRCh37 |
| NC_000002.10:g.189577278T>C | NCBI36 |
| NG_007404.1:g.34935T>C , LRG_3:g.34935T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2775T>C | ENSP00000415346.2:p.Leu925= | |
| ENST00000304636.9:c.2874T>C MANE Select | ENSP00000304408.4:p.Leu958= | |
| ENST00000304636.7:c.2874T>C | ENSP00000304408.3:p.Leu958= | |
| ENST00000317840.9:c.2527+1271T>C | ENSP00000315243.6:n.2527+1271T>C | |
| NM_000090.3:c.2874T>C , LRG_3t1:c.2874T>C | NP_000081.1:p.Leu958= | |
| NM_000090.4:c.2874T>C MANE Select | NP_000081.2:p.Leu958= |