Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157241670C>T , CM000667.2:g.157241670C>T | GRCh38 |
| NC_000005.9:g.156668680C>T , CM000667.1:g.156668680C>T | GRCh37 |
| NC_000005.8:g.156601258C>T | NCBI36 |
| NG_016276.1:g.65774C>T , LRG_189:g.65774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.876C>T | ENSP00000513001.1:p.Ser292= | |
| ENST00000422843.8:c.1010C>T MANE Select | ENSP00000398655.4:p.Pro337Leu | |
| ENST00000422843.7:c.1010C>T | ENSP00000398655.3:p.Pro337Leu | |
| ENST00000519402.5:n.2595C>T | ||
| ENST00000519749.1:n.80C>T | ||
| ENST00000520173.1:n.128C>T | ||
| NM_005546.3:c.1010C>T , LRG_189t1:c.1010C>T | NP_005537.3:p.Pro337Leu | |
| XM_017009443.1:c.635C>T | XP_016864932.1:p.Pro212Leu | |
| NM_005546.4:c.1010C>T MANE Select | NP_005537.3:p.Pro337Leu |