ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000324868 (MANE Select)
0.339
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32755501C>G , CM000674.2:g.32755501C>G | GRCh38 |
| NC_000012.11:g.32908435C>G , CM000674.1:g.32908435C>G | GRCh37 |
| NC_000012.10:g.32799702C>G | NCBI36 |
| NG_028122.1:g.5453G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324868.13:c.374G>C MANE Select | ENSP00000320658.8:p.Arg125Pro | |
| ENST00000324868.12:c.374G>C | ENSP00000320658.8:p.Arg125Pro | |
| ENST00000548490.1:c.296G>C | ENSP00000447710.1:p.Arg99Pro | |
| NM_001040436.2:c.374G>C | NP_001035526.1:p.Arg125Pro | |
| XR_242891.3:n.461G>C | ||
| XR_242892.3:n.461G>C | ||
| XR_429036.1:n.461G>C | ||
| XR_931296.1:n.461G>C | ||
| XR_931297.1:n.461G>C | ||
| XR_931298.1:n.461G>C | ||
| XR_931299.1:n.461G>C | ||
| XR_001748730.2:n.958G>C | ||
| XR_002957331.1:n.958G>C | ||
| XR_242892.5:n.958G>C | ||
| XR_931296.3:n.958G>C | ||
| NM_001040436.3:c.374G>C MANE Select | NP_001035526.1:p.Arg125Pro |