Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157241516G>T , CM000667.2:g.157241516G>T | GRCh38 |
| NC_000005.9:g.156668526G>T , CM000667.1:g.156668526G>T | GRCh37 |
| NC_000005.8:g.156601104G>T | NCBI36 |
| NG_016276.1:g.65620G>T , LRG_189:g.65620G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.852-130G>T | ENSP00000513001.1:n.852-130G>T | |
| ENST00000422843.8:c.986-130G>T MANE Select | ENSP00000398655.4:n.986-130G>T | |
| ENST00000422843.7:c.986-130G>T | ENSP00000398655.3:n.986-130G>T | |
| ENST00000519402.5:n.2441G>T | ||
| ENST00000520173.1:n.104-130G>T | ||
| NM_005546.3:c.986-130G>T , LRG_189t1:c.986-130G>T | NP_005537.3:n.986-130G>T | |
| XM_017009443.1:c.611-130G>T | XP_016864932.1:n.611-130G>T | |
| NM_005546.4:c.986-130G>T MANE Select | NP_005537.3:n.986-130G>T |