Linked Data
dbSNP Id:
rs779262692
ExAC:
11:46749758 C / T
gnomAD v2:
11-46749758-C-T
gnomAD v4:
11-46728208-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46728208C>T , CM000673.2:g.46728208C>T | GRCh38 |
| NC_000011.9:g.46749758C>T , CM000673.1:g.46749758C>T | GRCh37 |
| NC_000011.8:g.46706334C>T | NCBI36 |
| NG_008953.1:g.14016C>T , LRG_551:g.14016C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.1298+45C>T MANE Select | ENSP00000308541.5:n.1298+45C>T | |
| ENST00000311907.9:c.1298+45C>T | ENSP00000308541.5:n.1298+45C>T | |
| ENST00000530231.5:c.1298+45C>T | ENSP00000433907.1:n.1298+45C>T | |
| NM_000506.3:c.1298+45C>T | NP_000497.1:n.1298+45C>T | |
| NM_000506.4:c.1298+45C>T , LRG_551t1:c.1298+45C>T | NP_000497.1:n.1298+45C>T | |
| NM_001311257.1:c.1250+45C>T | NP_001298186.1:n.1250+45C>T | |
| XR_428840.2:n.1342+45C>T | ||
| XR_428840.4:n.1333+45C>T | ||
| NM_000506.5:c.1298+45C>T MANE Select | NP_000497.1:n.1298+45C>T | |
| NM_001311257.2:c.1250+45C>T | NP_001298186.1:n.1250+45C>T |