Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.24676530G>C , CM000677.2:g.24676530G>C | GRCh38 |
| NC_000015.9:g.24921677G>C , CM000677.1:g.24921677G>C | GRCh37 |
| NC_000015.8:g.22472770G>C | NCBI36 |
| NG_021413.1:g.6137G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329468.5:c.663G>C MANE Select | ENSP00000333735.3:p.Met221Ile | |
| ENST00000329468.3:c.663G>C | ENSP00000333735.2:p.Met221Ile | |
| NM_018958.2:c.663G>C | NP_061831.2:p.Met221Ile | |
| NM_018958.3:c.663G>C MANE Select | NP_061831.2:p.Met221Ile |