Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116927317C>G , CM000668.2:g.116927317C>G | GRCh38 |
| NC_000006.11:g.117248480C>G , CM000668.1:g.117248480C>G | GRCh37 |
| NC_000006.10:g.117355173C>G | NCBI36 |
| NG_027699.1:g.55105C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173560.4:c.2176C>G MANE Select | NP_775831.2:p.Arg726Gly |
| ENST00000332958.3:c.2176C>G MANE Select | ENSP00000332208.2:p.Arg726Gly |
| NM_173560.3:c.2176C>G | NP_775831.2:p.Arg726Gly |
| ENST00000332958.2:c.2176C>G | ENSP00000332208.2:p.Arg726Gly |
| XM_011535589.1:c.2068C>G | XP_011533891.1:p.Arg690Gly |
| XM_017010477.1:c.1798C>G | XP_016865966.1:p.Arg600Gly |