Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119382342G>C , CM000665.2:g.119382342G>C | GRCh38 |
| NC_000003.11:g.119101189G>C , CM000665.1:g.119101189G>C | GRCh37 |
| NC_000003.10:g.120583879G>C | NCBI36 |
| NG_007665.2:g.92970G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020754.4:c.482G>C MANE Select | NP_065805.2:p.Ser161Thr |
| ENST00000264245.9:c.482G>C MANE Select | ENSP00000264245.4:p.Ser161Thr |
| NM_020754.3:c.482G>C | NP_065805.2:p.Ser161Thr |
| ENST00000264245.8:c.482G>C | ENSP00000264245.4:p.Ser161Thr |
| ENST00000482743.1:c.395G>C | ENSP00000418429.1:p.Ser132Thr |
| XM_005247671.3:c.389G>C | XP_005247728.1:p.Ser130Thr |
| XM_006713714.2:c.482G>C | XP_006713777.1:p.Ser161Thr |
| XM_006713714.3:c.482G>C | XP_006713777.1:p.Ser161Thr |
| XM_017006955.1:c.-11G>C | XP_016862444.1:n.-11G>C |