Linked Data
ClinVar Variation Id:
2562289
ClinVar RCV Id:
RCV003310349
dbSNP Id:
rs1479463446
gnomAD v3:
2-188994314-T-C
gnomAD v4:
2-188994314-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188994314T>C , CM000664.2:g.188994314T>C | GRCh38 |
| NC_000002.11:g.189859040T>C , CM000664.1:g.189859040T>C | GRCh37 |
| NC_000002.10:g.189567285T>C | NCBI36 |
| NG_007404.1:g.24942T>C , LRG_3:g.24942T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1176T>C | ENSP00000415346.2:p.Pro392= | |
| ENST00000304636.9:c.1275T>C MANE Select | ENSP00000304408.4:p.Pro425= | |
| ENST00000304636.7:c.1275T>C | ENSP00000304408.3:p.Pro425= | |
| ENST00000317840.9:c.1275T>C | ENSP00000315243.6:p.Pro425= | |
| NM_000090.3:c.1275T>C , LRG_3t1:c.1275T>C | NP_000081.1:p.Pro425= | |
| NM_000090.4:c.1275T>C MANE Select | NP_000081.2:p.Pro425= |