Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208128343C>A , CM000664.2:g.208128343C>A | GRCh38 |
| NC_000002.11:g.208993067C>A , CM000664.1:g.208993067C>A | GRCh37 |
| NC_000002.10:g.208701312C>A | NCBI36 |
| NG_008038.1:g.6488G>T | |
| NG_008039.1:g.1247G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020989.4:c.385G>T MANE Select | NP_066269.1:p.Gly129Cys |
| ENST00000282141.4:c.385G>T MANE Select | ENSP00000282141.3:p.Gly129Cys |
| NM_020989.3:c.385G>T | NP_066269.1:p.Gly129Cys |
| NR_038437.1:n.98-8713C>A | |
| ENST00000282141.3:c.385G>T | ENSP00000282141.3:p.Gly129Cys |
| XM_011510661.1:c.385G>T | XP_011508963.1:p.Gly129Cys |
| XM_011510662.1:c.385G>T | XP_011508964.1:p.Gly129Cys |
| XM_011510663.1:c.256G>T | XP_011508965.1:p.Gly86Cys |