Linked Data
ClinVar Variation Id:
456868
dbSNP Id:
rs368011737
ExAC:
11:2592594 T / G
gnomAD v2:
11-2592594-T-G
gnomAD v3:
11-2571364-T-G
gnomAD v4:
11-2571364-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2571364T>G , CM000673.2:g.2571364T>G | GRCh38 |
| NC_000011.9:g.2592594T>G , CM000673.1:g.2592594T>G | GRCh37 |
| NC_000011.8:g.2549170T>G | NCBI36 |
| NG_008935.1:g.131374T>G , LRG_287:g.131374T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.383T>G | ENSP00000434560.2:p.Val128Gly | |
| ENST00000646564.2:c.478-12071T>G | ENSP00000495806.2:n.478-12071T>G | |
| ENST00000155840.12:c.644T>G MANE Select | ENSP00000155840.2:p.Val215Gly | |
| ENST00000335475.6:c.263T>G | ENSP00000334497.5:p.Val88Gly | |
| ENST00000646564.1:c.124-12071T>G | ENSP00000495806.1:n.124-12071T>G | |
| ENST00000155840.9:c.644T>G | ENSP00000155840.2:p.Val215Gly | |
| ENST00000335475.5:c.263T>G | ENSP00000334497.5:p.Val88Gly | |
| ENST00000496887.6:c.383T>G | ENSP00000434560.1:p.Val128Gly | |
| NM_000218.2:c.644T>G , LRG_287t1:c.644T>G | NP_000209.2:p.Val215Gly | |
| NM_181798.1:c.263T>G , LRG_287t2:c.263T>G | NP_861463.1:p.Val88Gly | |
| NM_000218.3:c.644T>G MANE Select | NP_000209.2:p.Val215Gly |