Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161417002G>C , CM000664.2:g.161417002G>C | GRCh38 |
| NC_000002.11:g.162273513G>C , CM000664.1:g.162273513G>C | GRCh37 |
| NC_000002.10:g.161981759G>C | NCBI36 |
| NG_046904.1:g.5894G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006593.4:c.592G>C MANE Select | NP_006584.1:p.Gly198Arg |
| ENST00000389554.8:c.592G>C MANE Select | ENSP00000374205.3:p.Gly198Arg |
| NM_006593.2:c.592G>C | NP_006584.1:p.Gly198Arg |
| NM_006593.3:c.592G>C | NP_006584.1:p.Gly198Arg |
| ENST00000389554.7:c.592G>C | ENSP00000374205.3:p.Gly198Arg |
| ENST00000463544.1:n.672G>C |