ClinVar RCV:
ClinVar Variation:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.110317750G>A , CM000685.2:g.110317750G>A | GRCh38 |
| NC_000023.10:g.109560978G>A , CM000685.1:g.109560978G>A | GRCh37 |
| NC_000023.9:g.109447634G>A | NCBI36 |
| NG_016469.1:g.127484C>T | |
| NG_016469.2:g.127484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697559.1:n.365C>T | ||
| ENST00000686065.1:c.322C>T | ENSP00000509935.1:p.Pro108Ser | |
| ENST00000262844.10:c.322C>T MANE Select | ENSP00000262844.5:p.Pro108Ser | |
| ENST00000680410.1:n.441-53151C>T | ||
| ENST00000262844.9:c.322C>T | ENSP00000262844.5:p.Pro108Ser | |
| ENST00000372057.1:c.-48C>T | ENSP00000361127.1:n.-48C>T | |
| ENST00000372059.6:c.322C>T | ENSP00000361129.2:p.Pro108Ser | |
| ENST00000473662.1:n.22C>T | ||
| ENST00000496695.1:n.7C>T | ||
| NM_001025580.1:c.322C>T | NP_001020751.1:p.Pro108Ser | |
| NM_001171689.1:c.-48C>T | NP_001165160.1:n.-48C>T | |
| NM_015365.2:c.322C>T | NP_056180.1:p.Pro108Ser | |
| NM_015365.3:c.322C>T MANE Select | NP_056180.1:p.Pro108Ser | |
| NM_001025580.2:c.322C>T | NP_001020751.1:p.Pro108Ser | |
| NM_001171689.2:c.-48C>T | NP_001165160.1:n.-48C>T |