Linked Data
ClinVar Variation Id:
378011
ClinVar RCV Id:
RCV000422020
RCV000726997
RCV001107835
RCV001107836
RCV001102598
RCV001102599
RCV002061409
dbSNP Id:
rs370023636
ExAC:
11:2466728 C / T
gnomAD v2:
11-2466728-C-T
gnomAD v3:
11-2445498-C-T
gnomAD v4:
11-2445498-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445498C>T , CM000673.2:g.2445498C>T | GRCh38 |
| NC_000011.9:g.2466728C>T , CM000673.1:g.2466728C>T | GRCh37 |
| NC_000011.8:g.2423304C>T | NCBI36 |
| NG_008935.1:g.5508C>T , LRG_287:g.5508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.125+14C>T | ENSP00000434560.2:n.125+14C>T | |
| ENST00000646564.2:c.386+14C>T | ENSP00000495806.2:n.386+14C>T | |
| ENST00000155840.12:c.386+14C>T MANE Select | ENSP00000155840.2:n.386+14C>T | |
| ENST00000646564.1:c.32+14C>T | ENSP00000495806.1:n.32+14C>T | |
| ENST00000155840.9:c.386+14C>T | ENSP00000155840.2:n.386+14C>T | |
| ENST00000345015.4:n.163+14C>T | ||
| ENST00000496887.6:c.125+14C>T | ENSP00000434560.1:n.125+14C>T | |
| NM_000218.2:c.386+14C>T , LRG_287t1:c.386+14C>T | NP_000209.2:n.386+14C>T | |
| NM_000218.3:c.386+14C>T MANE Select | NP_000209.2:n.386+14C>T |