Linked Data
ClinVar Variation Id:
36436
ClinVar RCV Id:
RCV000035342
RCV000283709
RCV000298782
RCV000335028
RCV000343301
RCV000405757
RCV001355532
RCV001841534
RCV002054499
dbSNP Id:
rs11024034
ExAC:
11:2790163 T / C
gnomAD v2:
11-2790163-T-C
gnomAD v3:
11-2768933-T-C
gnomAD v4:
11-2768933-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768933T>C , CM000673.2:g.2768933T>C | GRCh38 |
| NC_000011.9:g.2790163T>C , CM000673.1:g.2790163T>C | GRCh37 |
| NC_000011.8:g.2746739T>C | NCBI36 |
| NG_008935.1:g.328943T>C , LRG_287:g.328943T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1233+14T>C | ENSP00000434560.2:n.1233+14T>C | |
| ENST00000646564.2:c.1050+14T>C | ENSP00000495806.2:n.1050+14T>C | |
| ENST00000155840.12:c.1590+14T>C MANE Select | ENSP00000155840.2:n.1590+14T>C | |
| ENST00000335475.6:c.1209+14T>C | ENSP00000334497.5:n.1209+14T>C | |
| ENST00000646564.1:c.696+14T>C | ENSP00000495806.1:n.696+14T>C | |
| ENST00000155840.9:c.1590+14T>C | ENSP00000155840.2:n.1590+14T>C | |
| ENST00000335475.5:c.1209+14T>C | ENSP00000334497.5:n.1209+14T>C | |
| NM_000218.2:c.1590+14T>C , LRG_287t1:c.1590+14T>C | NP_000209.2:n.1590+14T>C | |
| NM_181798.1:c.1209+14T>C , LRG_287t2:c.1209+14T>C | NP_861463.1:n.1209+14T>C | |
| NM_000218.3:c.1590+14T>C MANE Select | NP_000209.2:n.1590+14T>C |