Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89669998G>T , CM000677.2:g.89669998G>T | GRCh38 |
| NC_000015.9:g.90213229G>T , CM000677.1:g.90213229G>T | GRCh37 |
| NC_000015.8:g.88014233G>T | NCBI36 |
| NG_029172.1:g.14420C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300055.10:c.580C>A MANE Select | ENSP00000300055.5:p.Pro194Thr | |
| ENST00000300055.9:c.580C>A | ENSP00000300055.5:p.Pro194Thr | |
| ENST00000430628.2:c.580C>A | ENSP00000402167.2:p.Pro194Thr | |
| NM_001145311.1:c.580C>A | NP_001138783.1:p.Pro194Thr | |
| NM_002666.4:c.580C>A | NP_002657.3:p.Pro194Thr | |
| XM_005254934.3:c.580C>A | XP_005254991.1:p.Pro194Thr | |
| XM_005254934.4:c.580C>A | XP_005254991.1:p.Pro194Thr | |
| NM_002666.5:c.580C>A MANE Select | NP_002657.3:p.Pro194Thr | |
| NM_001145311.2:c.580C>A | NP_001138783.1:p.Pro194Thr |