Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.59195731C>A , CM000677.2:g.59195731C>A | GRCh38 |
| NC_000015.9:g.59487930C>A , CM000677.1:g.59487930C>A | GRCh37 |
| NC_000015.8:g.57275222C>A | NCBI36 |
| NG_031999.1:g.182142G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004998.4:c.1699-164G>T MANE Select | NP_004989.2:n.1699-164G>T |
| ENST00000288235.9:c.1699-164G>T MANE Select | ENSP00000288235.4:n.1699-164G>T |
| NM_004998.3:c.1699-164G>T | NP_004989.2:n.1699-164G>T |
| ENST00000288235.8:c.1699-164G>T | ENSP00000288235.4:n.1699-164G>T |
| ENST00000558182.5:n.225-164G>T | |
| ENST00000559269.5:c.597+22160G>T | ENSP00000453232.1:n.597+22160G>T |
| ENST00000560642.1:n.489-164G>T | |
| ENST00000560749.1:c.270-164G>T | |
| XM_024449932.1:c.157-164G>T | XP_024305700.1:n.157-164G>T |