Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32816899C>T , CM000668.2:g.32816899C>T | GRCh38 |
| NC_000006.11:g.32784676C>T , CM000668.1:g.32784676C>T | GRCh37 |
| NC_000006.10:g.32892654C>T | NCBI36 |
| NG_009793.3:g.26872G>A | |
| NG_012008.1:g.5150G>A | |
| NG_009793.4:g.26872G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002120.4:c.53G>A MANE Select | NP_002111.1:p.Arg18Gln |
| ENST00000438763.7:c.53G>A MANE Select | ENSP00000390020.2:p.Arg18Gln |
| NM_002120.3:c.53G>A | NP_002111.1:p.Arg18Gln |
| ENST00000438763.6:c.53G>A | ENSP00000390020.2:p.Arg18Gln |
| ENST00000447394.1:c.12G>A | |
| ENST00000452392.2:c.1986G>A | ENSP00000391806.2:p.Pro662= |
| ENST00000475235.1:n.90G>A | |
| ENST00000488325.5:c.53G>A | ENSP00000436618.1:p.Arg18Gln |
| ENST00000648009.1:c.53G>A | ENSP00000496848.1:p.Arg18Gln |