Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.140405975G>T , CM000666.2:g.140405975G>T | GRCh38 |
| NC_000004.11:g.141327129G>T , CM000666.1:g.141327129G>T | GRCh37 |
| NC_000004.10:g.141546579G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004362.3:c.386C>A MANE Select | NP_004353.1:p.Pro129Gln |
| ENST00000325617.10:c.386C>A MANE Select | ENSP00000326699.5:p.Pro129Gln |
| NM_001130675.1:c.386C>A | NP_001124147.1:p.Pro129Gln |
| NM_001130675.2:c.386C>A | NP_001124147.1:p.Pro129Gln |
| NM_004362.2:c.386C>A | NP_004353.1:p.Pro129Gln |
| ENST00000325617.9:c.386C>A | ENSP00000326699.5:p.Pro129Gln |
| ENST00000414773.5:c.386C>A | ENSP00000392782.1:p.Pro129Gln |
| ENST00000509477.1:c.386C>A | ENSP00000424593.1:p.Pro129Gln |