Linked Data
dbSNP Id:
rs1846768271
gnomAD v4:
11-6319238-C-A
MyVariant Identifiers:
chr11:g.6340468C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319238C>A , CM000673.2:g.6319238C>A | GRCh38 |
| NC_000011.9:g.6340468C>A , CM000673.1:g.6340468C>A | GRCh37 |
| NC_000011.8:g.6297044C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.711G>T MANE Select | ENSP00000307292.3:p.Pro237= | |
| ENST00000303927.3:c.711G>T | ENSP00000307292.3:p.Pro237= | |
| ENST00000524852.1:n.497G>T | ||
| ENST00000530979.1:c.807G>T | ENSP00000432047.1:p.Pro269= | |
| ENST00000532354.1:n.733G>T | ||
| NM_145040.2:c.711G>T | NP_659477.2:p.Pro237= | |
| XR_930997.1:n.720+1018C>A | ||
| XR_242848.4:n.98C>A | ||
| NM_145040.3:c.711G>T MANE Select | NP_659477.2:p.Pro237= |