Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151251360C>T , CM000664.2:g.151251360C>T | GRCh38 |
| NC_000002.11:g.152107874C>T , CM000664.1:g.152107874C>T | GRCh37 |
| NC_000002.10:g.151816120C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331426.6:c.620G>A MANE Select | ENSP00000331211.5:p.Arg207Lys | |
| ENST00000331426.5:c.620G>A | ENSP00000331211.5:p.Arg207Lys | |
| NM_198557.2:c.620G>A | NP_940959.1:p.Arg207Lys | |
| XM_011511146.1:c.629G>A | XP_011509448.1:p.Arg210Lys | |
| NM_198557.3:c.620G>A MANE Select | NP_940959.1:p.Arg207Lys |