Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99831628C= , CM000672.2:g.99831628C= | GRCh38 |
| NC_000010.10:g.101591385C= , CM000672.1:g.101591385C= | GRCh37 |
| NC_000010.9:g.101581375C= | NCBI36 |
| NG_011798.1:g.53923C= | |
| NG_011798.2:g.54031C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000392.5:c.2901C= MANE Select | NP_000383.2:p.Tyr967= |
| ENST00000647814.1:c.2901C= MANE Select | ENSP00000497274.1:p.Tyr967= |
| NM_000392.4:c.2901C= | NP_000383.1:p.Tyr967= |
| ENST00000370449.8:c.2901C= | ENSP00000359478.4:p.Tyr967= |
| XM_006717630.2:c.2205C= | XP_006717693.1:p.Tyr735= |
| XM_006717630.3:c.2205C= | XP_006717693.1:p.Tyr735= |
| XM_011539291.1:c.*14C= | XP_011537593.1:n.*14C= |
| XM_011539291.3:c.*14C= | XP_011537593.1:n.*14C= |
| XR_945604.1:n.3090C= | |
| XR_945604.3:n.3144C= | |
| XR_945605.1:n.3092C= | |
| XR_945605.3:n.3144C= |