Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942443G>C , CM000664.2:g.44942443G>C | GRCh38 |
| NC_000002.11:g.45169582G>C , CM000664.1:g.45169582G>C | GRCh37 |
| NC_000002.10:g.45023086G>C | NCBI36 |
| NG_016222.1:g.5546G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005413.4:c.339G>C MANE Select | NP_005404.1:p.Trp113Cys |
| ENST00000260653.5:c.339G>C MANE Select | ENSP00000260653.3:p.Trp113Cys |
| NM_005413.3:c.339G>C | NP_005404.1:p.Trp113Cys |
| ENST00000260653.4:c.339G>C | ENSP00000260653.3:p.Trp113Cys |
| XM_011533042.1:c.339G>C | XP_011531344.1:p.Trp113Cys |