Linked Data
ClinVar Variation Id:
1085246
ClinVar RCV Id:
RCV001402571
dbSNP Id:
rs1189242847
gnomAD v2:
15-40764513-T-C
gnomAD v4:
15-40472314-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472314T>C , CM000677.2:g.40472314T>C | GRCh38 |
| NC_000015.9:g.40764513T>C , CM000677.1:g.40764513T>C | GRCh37 |
| NC_000015.8:g.38551805T>C | NCBI36 |
| NG_017074.1:g.6354T>C , LRG_600:g.6354T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.1101T>C MANE Select | ENSP00000307297.6:p.Pro367= | |
| ENST00000306243.6:c.1101T>C | ENSP00000307297.5:p.Pro367= | |
| ENST00000559991.1:c.1026T>C | ENSP00000453882.1:p.Pro342= | |
| NM_130468.3:c.1101T>C , LRG_600t1:c.1101T>C | NP_569735.1:p.Pro367= | |
| NM_130468.4:c.1101T>C MANE Select | NP_569735.1:p.Pro367= |