Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837111C>T , CM000670.2:g.117837111C>T | GRCh38 |
| NC_000008.10:g.118849350C>T , CM000670.1:g.118849350C>T | GRCh37 |
| NC_000008.9:g.118918531C>T | NCBI36 |
| NG_007455.2:g.279709G>A , LRG_493:g.279709G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.520G>A | ||
| ENST00000378204.7:c.1053G>A MANE Select | ENSP00000367446.3:p.Leu351= | |
| ENST00000436216.2:c.421G>A | ||
| ENST00000378204.6:c.1053G>A | ENSP00000367446.2:p.Leu351= | |
| ENST00000436216.1:c.421G>A | ||
| ENST00000437196.1:c.74-1560G>A | ENSP00000407299.1:n.74-1560G>A | |
| NM_000127.2:c.1053G>A , LRG_493t1:c.1053G>A | NP_000118.2:p.Leu351= | |
| NM_000127.3:c.1053G>A MANE Select | NP_000118.2:p.Leu351= |