Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37804071G= , CM000685.2:g.37804071G= | GRCh38 |
| NC_000023.10:g.37663324G= , CM000685.1:g.37663324G= | GRCh37 |
| NC_000023.9:g.37548268G= | NCBI36 |
| NG_009065.1:g.29055G= , LRG_53:g.29055G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*601G= | ENSP00000512461.1:n.*601G= | |
| ENST00000696171.1:c.996G= | ENSP00000512462.1:p.Gly332= | |
| ENST00000378588.5:c.1092G= MANE Select | ENSP00000367851.4:p.Gly364= | |
| ENST00000378588.4:c.1092G= | ENSP00000367851.4:p.Gly364= | |
| ENST00000465127.1:c.171+378071G= | ENSP00000417050.1:n.171+378071G= | |
| ENST00000492288.1:n.517G= | ||
| NM_000397.3:c.1092G= , LRG_53t1:c.1092G= | NP_000388.2:p.Gly364= | |
| XM_011543890.1:c.786G= | XP_011542192.1:p.Gly262= | |
| NM_000397.4:c.1092G= MANE Select | NP_000388.2:p.Gly364= |