Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536634T>A , CM000679.2:g.42536634T>A | GRCh38 |
| NC_000017.10:g.40688652T>A , CM000679.1:g.40688652T>A | GRCh37 |
| NC_000017.9:g.37942178T>A | NCBI36 |
| NG_011552.1:g.5702T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.362T>A MANE Select | ENSP00000225927.1:p.Leu121Gln | |
| ENST00000225927.6:c.362T>A | ENSP00000225927.1:p.Leu121Gln | |
| ENST00000586516.5:c.112T>A | ||
| ENST00000591587.1:c.105T>A | ENSP00000467836.1:p.Ala35= | |
| NM_000263.3:c.362T>A | NP_000254.2:p.Leu121Gln | |
| XM_006721920.2:c.-381T>A | XP_006721983.1:n.-381T>A | |
| XM_011524840.1:c.-381T>A | XP_011523142.1:n.-381T>A | |
| XM_024450771.1:c.362T>A | XP_024306539.1:p.Leu121Gln | |
| NM_000263.4:c.362T>A MANE Select | NP_000254.2:p.Leu121Gln |