Linked Data
dbSNP Id:
rs940421133
gnomAD v2:
11-46747846-A-C
gnomAD v3:
11-46726296-A-C
gnomAD v4:
11-46726296-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46726296A>C , CM000673.2:g.46726296A>C | GRCh38 |
| NC_000011.9:g.46747846A>C , CM000673.1:g.46747846A>C | GRCh37 |
| NC_000011.8:g.46704422A>C | NCBI36 |
| NG_008953.1:g.12104A>C , LRG_551:g.12104A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.874+123A>C MANE Select | ENSP00000308541.5:n.874+123A>C | |
| ENST00000311907.9:c.874+123A>C | ENSP00000308541.5:n.874+123A>C | |
| ENST00000442468.1:c.844+123A>C | ENSP00000387413.1:n.844+123A>C | |
| ENST00000530231.5:c.874+123A>C | ENSP00000433907.1:n.874+123A>C | |
| NM_000506.3:c.874+123A>C | NP_000497.1:n.874+123A>C | |
| NM_000506.4:c.874+123A>C , LRG_551t1:c.874+123A>C | NP_000497.1:n.874+123A>C | |
| NM_001311257.1:c.826+123A>C | NP_001298186.1:n.826+123A>C | |
| XR_428840.2:n.918+123A>C | ||
| XR_428840.4:n.909+123A>C | ||
| NM_000506.5:c.874+123A>C MANE Select | NP_000497.1:n.874+123A>C | |
| NM_001311257.2:c.826+123A>C | NP_001298186.1:n.826+123A>C |