Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481268C>G , CM000665.2:g.128481268C>G | GRCh38 |
| NC_000003.11:g.128200111C>G , CM000665.1:g.128200111C>G | GRCh37 |
| NC_000003.10:g.129682801C>G | NCBI36 |
| NG_029334.1:g.16920G>C , LRG_295:g.16920G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1194G>C MANE Plus Clinical | ENSP00000417074.1:p.Arg398= | |
| ENST00000696466.1:c.1476G>C | ENSP00000512647.1:p.Arg492= | |
| ENST00000696672.1:c.169G>C | ENSP00000512796.1:p.Glu57Gln | |
| ENST00000341105.7:c.1194G>C MANE Select | ENSP00000345681.2:p.Arg398= | |
| ENST00000341105.6:c.1194G>C | ENSP00000345681.2:p.Arg398= | |
| ENST00000430265.6:c.1152G>C | ENSP00000400259.2:p.Arg384= | |
| ENST00000487848.5:c.1194G>C | ENSP00000417074.1:p.Arg398= | |
| ENST00000489987.1:n.311G>C | ||
| NM_001145661.1:c.1194G>C , LRG_295t1:c.1194G>C | NP_001139133.1:p.Arg398= | |
| NM_001145662.1:c.1152G>C | NP_001139134.1:p.Arg384= | |
| NM_032638.4:c.1194G>C , LRG_295t2:c.1194G>C | NP_116027.2:p.Arg398= | |
| NM_001145661.2:c.1194G>C MANE Plus Clinical | NP_001139133.1:p.Arg398= | |
| NM_032638.5:c.1194G>C MANE Select | NP_116027.2:p.Arg398= |