Linked Data
dbSNP Id:
rs778834493
ExAC:
11:2604688 T / C
gnomAD v2:
11-2604688-T-C
gnomAD v4:
11-2583458-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583458T>C , CM000673.2:g.2583458T>C | GRCh38 |
| NC_000011.9:g.2604688T>C , CM000673.1:g.2604688T>C | GRCh37 |
| NC_000011.8:g.2561264T>C | NCBI36 |
| NG_008935.1:g.143468T>C , LRG_287:g.143468T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.684T>C | ENSP00000434560.2:p.Tyr228= | |
| ENST00000646564.2:c.501T>C | ENSP00000495806.2:p.Tyr167= | |
| ENST00000155840.12:c.945T>C MANE Select | ENSP00000155840.2:p.Tyr315= | |
| ENST00000335475.6:c.564T>C | ENSP00000334497.5:p.Tyr188= | |
| ENST00000646564.1:c.147T>C | ENSP00000495806.1:p.Tyr49= | |
| ENST00000155840.9:c.945T>C | ENSP00000155840.2:p.Tyr315= | |
| ENST00000335475.5:c.564T>C | ENSP00000334497.5:p.Tyr188= | |
| NM_000218.2:c.945T>C , LRG_287t1:c.945T>C | NP_000209.2:p.Tyr315= | |
| NM_181798.1:c.564T>C , LRG_287t2:c.564T>C | NP_861463.1:p.Tyr188= | |
| NM_000218.3:c.945T>C MANE Select | NP_000209.2:p.Tyr315= |