Linked Data
ClinVar Variation Id:
138002
dbSNP Id:
rs201590918
ExAC:
11:2606541 C / T
gnomAD v2:
11-2606541-C-T
gnomAD v3:
11-2585311-C-T
gnomAD v4:
11-2585311-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585311C>T , CM000673.2:g.2585311C>T | GRCh38 |
| NC_000011.9:g.2606541C>T , CM000673.1:g.2606541C>T | GRCh37 |
| NC_000011.8:g.2563117C>T | NCBI36 |
| NG_008935.1:g.145321C>T , LRG_287:g.145321C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771+1766C>T | ENSP00000434560.2:n.771+1766C>T | |
| ENST00000646564.2:c.588+1766C>T | ENSP00000495806.2:n.588+1766C>T | |
| ENST00000155840.12:c.1128+4C>T MANE Select | ENSP00000155840.2:n.1128+4C>T | |
| ENST00000335475.6:c.747+4C>T | ENSP00000334497.5:n.747+4C>T | |
| ENST00000646564.1:c.234+1766C>T | ENSP00000495806.1:n.234+1766C>T | |
| ENST00000155840.9:c.1128+4C>T | ENSP00000155840.2:n.1128+4C>T | |
| ENST00000335475.5:c.747+4C>T | ENSP00000334497.5:n.747+4C>T | |
| NM_000218.2:c.1128+4C>T , LRG_287t1:c.1128+4C>T | NP_000209.2:n.1128+4C>T | |
| NM_181798.1:c.747+4C>T , LRG_287t2:c.747+4C>T | NP_861463.1:n.747+4C>T | |
| NM_000218.3:c.1128+4C>T MANE Select | NP_000209.2:n.1128+4C>T |