Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33408786C>T , CM000682.2:g.33408786C>T | GRCh38 |
| NC_000020.10:g.31996592C>T , CM000682.1:g.31996592C>T | GRCh37 |
| NC_000020.9:g.31460253C>T | NCBI36 |
| NG_011622.1:g.40107G>A , LRG_332:g.40107G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003098.3:c.1340G>A MANE Select | NP_003089.1:p.Arg447Gln |
| ENST00000217381.3:c.1340G>A MANE Select | ENSP00000217381.2:p.Arg447Gln |
| NM_003098.2:c.1340G>A , LRG_332t1:c.1340G>A | NP_003089.1:p.Arg447Gln |
| ENST00000217381.2:c.1340G>A | ENSP00000217381.2:p.Arg447Gln |
| XM_005260517.1:c.1340G>A | XP_005260574.1:p.Arg447Gln |
| XM_011529007.1:c.1372G>A | XP_011527309.1:p.Asp458Asn |
| XM_011529008.1:c.1372G>A | XP_011527310.1:p.Asp458Asn |
| XM_024451971.1:c.1013G>A | XP_024307739.1:p.Arg338Gln |
| XR_936612.1:n.1376G>A |