Linked Data
ClinVar Variation Id:
52953
ClinVar RCV Id:
RCV000045957
RCV000057548
RCV000223836
RCV000851291
RCV000735400
RCV003335077
RCV003448253
RCV000762835
RCV003162397
RCV003330078
RCV001841623
dbSNP Id:
rs12720458
ExAC:
11:2606494 A / G
gnomAD v2:
11-2606494-A-G
gnomAD v3:
11-2585264-A-G
gnomAD v4:
11-2585264-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585264A>G , CM000673.2:g.2585264A>G | GRCh38 |
| NC_000011.9:g.2606494A>G , CM000673.1:g.2606494A>G | GRCh37 |
| NC_000011.8:g.2563070A>G | NCBI36 |
| NG_008935.1:g.145274A>G , LRG_287:g.145274A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771+1719A>G | ENSP00000434560.2:n.771+1719A>G | |
| ENST00000646564.2:c.588+1719A>G | ENSP00000495806.2:n.588+1719A>G | |
| ENST00000155840.12:c.1085A>G MANE Select | ENSP00000155840.2:p.Lys362Arg | |
| ENST00000335475.6:c.704A>G | ENSP00000334497.5:p.Lys235Arg | |
| ENST00000646564.1:c.234+1719A>G | ENSP00000495806.1:n.234+1719A>G | |
| ENST00000155840.9:c.1085A>G | ENSP00000155840.2:p.Lys362Arg | |
| ENST00000335475.5:c.704A>G | ENSP00000334497.5:p.Lys235Arg | |
| NM_000218.2:c.1085A>G , LRG_287t1:c.1085A>G | NP_000209.2:p.Lys362Arg | |
| NM_181798.1:c.704A>G , LRG_287t2:c.704A>G | NP_861463.1:p.Lys235Arg | |
| NM_000218.3:c.1085A>G MANE Select | NP_000209.2:p.Lys362Arg |