Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659188G= , CM000685.2:g.136659188G= | GRCh38 |
| NC_000023.10:g.135741347G= , CM000685.1:g.135741347G= | GRCh37 |
| NC_000023.9:g.135569013G= | NCBI36 |
| NG_007280.1:g.16012G= , LRG_141:g.16012G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*177G= | ENSP00000512122.1:n.*177G= | |
| ENST00000695725.1:c.*114G= | ENSP00000512123.1:n.*114G= | |
| ENST00000695726.1:n.2527G= | ||
| ENST00000695729.1:n.3362G= | ||
| ENST00000370629.7:c.559G= MANE Select | ENSP00000359663.2:p.Ala187= | |
| ENST00000370628.2:c.496G= | ENSP00000359662.2:p.Ala166= | |
| ENST00000370629.6:c.559G= | ENSP00000359663.2:p.Ala187= | |
| NM_000074.2:c.559G= , LRG_141t1:c.559G= | NP_000065.1:p.Ala187= | |
| NM_000074.3:c.559G= MANE Select | NP_000065.1:p.Ala187= |