Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208142738C>T , CM000664.2:g.208142738C>T | GRCh38 |
| NC_000002.11:g.209007462C>T , CM000664.1:g.209007462C>T | GRCh37 |
| NC_000002.10:g.208715707C>T | NCBI36 |
| NG_028158.1:g.8416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260988.5:c.428G>A MANE Select | ENSP00000260988.4:p.Arg143Lys | |
| ENST00000260988.4:c.428G>A | ENSP00000260988.4:p.Arg143Lys | |
| NM_005210.3:c.428G>A | NP_005201.2:p.Arg143Lys | |
| NR_038437.1:n.221+5559C>T | ||
| XM_017003402.1:c.434G>A | XP_016858891.1:p.Arg145Lys | |
| NM_005210.4:c.428G>A MANE Select | NP_005201.2:p.Arg143Lys |