Linked Data
ClinVar Variation Id:
207968
dbSNP Id:
rs779383393
ExAC:
11:2606460 T / C
gnomAD v2:
11-2606460-T-C
gnomAD v4:
11-2585230-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585230T>C , CM000673.2:g.2585230T>C | GRCh38 |
| NC_000011.9:g.2606460T>C , CM000673.1:g.2606460T>C | GRCh37 |
| NC_000011.8:g.2563036T>C | NCBI36 |
| NG_008935.1:g.145240T>C , LRG_287:g.145240T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771+1685T>C | ENSP00000434560.2:n.771+1685T>C | |
| ENST00000646564.2:c.588+1685T>C | ENSP00000495806.2:n.588+1685T>C | |
| ENST00000155840.12:c.1051T>C MANE Select | ENSP00000155840.2:p.Phe351Leu | |
| ENST00000335475.6:c.670T>C | ENSP00000334497.5:p.Phe224Leu | |
| ENST00000646564.1:c.234+1685T>C | ENSP00000495806.1:n.234+1685T>C | |
| ENST00000155840.9:c.1051T>C | ENSP00000155840.2:p.Phe351Leu | |
| ENST00000335475.5:c.670T>C | ENSP00000334497.5:p.Phe224Leu | |
| NM_000218.2:c.1051T>C , LRG_287t1:c.1051T>C | NP_000209.2:p.Phe351Leu | |
| NM_181798.1:c.670T>C , LRG_287t2:c.670T>C | NP_861463.1:p.Phe224Leu | |
| NM_000218.3:c.1051T>C MANE Select | NP_000209.2:p.Phe351Leu |