Linked Data
ClinVar Variation Id:
509999
dbSNP Id:
rs1193552867
gnomAD v2:
11-119103166-G-T
gnomAD v4:
11-119232456-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119232456G>T , CM000673.2:g.119232456G>T | GRCh38 |
| NC_000011.9:g.119103166G>T , CM000673.1:g.119103166G>T | GRCh37 |
| NC_000011.8:g.118608376G>T | NCBI36 |
| NG_016808.1:g.31177G>T , LRG_608:g.31177G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.195+25844G>T | ENSP00000515005.1:n.195+25844G>T | |
| ENST00000264033.6:c.204G>T MANE Select | ENSP00000264033.3:p.Arg68= | |
| ENST00000637974.1:c.198G>T | ENSP00000490763.1:p.Arg66= | |
| ENST00000264033.5:c.204G>T | ENSP00000264033.3:p.Arg68= | |
| ENST00000634586.1:c.204G>T | ENSP00000489218.1:p.Arg68= | |
| ENST00000634840.1:c.204G>T | ENSP00000489324.1:p.Arg68= | |
| NM_005188.3:c.204G>T , LRG_608t1:c.204G>T | NP_005179.2:p.Arg68= | |
| XM_011543057.1:c.204G>T | XP_011541359.1:p.Arg68= | |
| NM_005188.4:c.204G>T MANE Select | NP_005179.2:p.Arg68= |