Linked Data
ClinVar Variation Id:
93375
dbSNP Id:
rs398123508
ExAC:
19:41928275 G / C
gnomAD v2:
19-41928275-G-C
gnomAD v3:
19-41422370-G-C
gnomAD v4:
19-41422370-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422370G>C , CM000681.2:g.41422370G>C | GRCh38 |
| NC_000019.9:g.41928275G>C , CM000681.1:g.41928275G>C | GRCh37 |
| NC_000019.8:g.46620115G>C | NCBI36 |
| NG_013004.1:g.29582G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.853G>C MANE Select | ENSP00000269980.2:p.Ala285Pro | |
| ENST00000269980.6:c.853G>C | ENSP00000269980.2:p.Ala285Pro | |
| ENST00000457836.6:c.787G>C | ENSP00000416000.2:p.Ala263Pro | |
| ENST00000535632.5:n.482G>C | ||
| ENST00000540732.3:c.955G>C | ENSP00000443246.1:p.Ala319Pro | |
| ENST00000542943.5:c.766G>C | ENSP00000440345.1:p.Ala256Pro | |
| ENST00000545787.1:n.481G>C | ||
| ENST00000595085.5:c.853G>C | ENSP00000471150.2:p.Ala285Pro | |
| NM_000709.3:c.853G>C | NP_000700.1:p.Ala285Pro | |
| NM_001164783.1:c.853G>C | NP_001158255.1:p.Ala285Pro | |
| NM_000709.4:c.853G>C MANE Select | NP_000700.1:p.Ala285Pro | |
| NM_001164783.2:c.853G>C | NP_001158255.1:p.Ala285Pro |