Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38731757C>G , CM000664.2:g.38731757C>G | GRCh38 |
| NC_000002.11:g.38958899C>G , CM000664.1:g.38958899C>G | GRCh37 |
| NC_000002.10:g.38812403C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138801.3:c.799C>G MANE Select | NP_620156.1:p.Arg267Gly |
| ENST00000272252.10:c.799C>G MANE Select | ENSP00000272252.5:p.Arg267Gly |
| NM_138801.2:c.799C>G | NP_620156.1:p.Arg267Gly |
| ENST00000272252.9:c.799C>G | ENSP00000272252.5:p.Arg267Gly |
| ENST00000410063.5:c.355C>G | ENSP00000386233.1:p.Arg119Gly |
| ENST00000434934.1:c.439C>G | ENSP00000399473.1:p.Arg147Gly |
| ENST00000444351.5:c.789C>G | ENSP00000409083.1:n.789C>G |
| XR_244925.1:n.1122C>G | |
| XR_244925.2:n.1110C>G | |
| XR_939976.1:n.85+1709G>C |