Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74685444T>A , CM000667.2:g.74685444T>A | GRCh38 |
| NC_000005.9:g.73981269T>A , CM000667.1:g.73981269T>A | GRCh37 |
| NC_000005.8:g.74017025T>A | NCBI36 |
| NG_009770.1:g.5301T>A | |
| NG_009770.2:g.50422T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.184T>A MANE Select | ENSP00000261416.7:p.Leu62Met | |
| ENST00000261416.11:c.184T>A | ENSP00000261416.7:p.Leu62Met | |
| ENST00000511181.5:c.-376-3884T>A | ENSP00000426285.1:n.-376-3884T>A | |
| ENST00000513079.5:n.249T>A | ||
| ENST00000515528.1:n.239T>A | ||
| NM_000521.3:c.184T>A | NP_000512.1:p.Ser62Thr | |
| NM_001292004.1:c.-376-3884T>A | NP_001278933.1:n.-376-3884T>A | |
| NM_000521.4:c.184T>A MANE Select | NP_000512.2:p.Leu62Met | |
| NM_001292004.2:c.-376-3884T>A | NP_001278933.1:n.-376-3884T>A |