Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37805020G>C , CM000685.2:g.37805020G>C | GRCh38 |
| NC_000023.10:g.37664273G>C , CM000685.1:g.37664273G>C | GRCh37 |
| NC_000023.9:g.37549217G>C | NCBI36 |
| NG_009065.1:g.30004G>C , LRG_53:g.30004G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696170.1:c.*675G>C | ENSP00000512461.1:n.*675G>C | |
| ENST00000696171.1:c.1070G>C | ENSP00000512462.1:p.Gly357Ala | |
| ENST00000378588.5:c.1166G>C MANE Select | ENSP00000367851.4:p.Gly389Ala | |
| ENST00000378588.4:c.1166G>C | ENSP00000367851.4:p.Gly389Ala | |
| ENST00000465127.1:c.171+379020G>C | ENSP00000417050.1:n.171+379020G>C | |
| NM_000397.3:c.1166G>C , LRG_53t1:c.1166G>C | NP_000388.2:p.Gly389Ala | |
| XM_011543890.1:c.860G>C | XP_011542192.1:p.Gly287Ala | |
| NM_000397.4:c.1166G>C MANE Select | NP_000388.2:p.Gly389Ala |