Linked Data
ClinVar Variation Id:
535804
dbSNP Id:
rs201749120
ExAC:
11:46921466 C / T
gnomAD v2:
11-46921466-C-T
gnomAD v3:
11-46899915-C-T
gnomAD v4:
11-46899915-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46899915C>T , CM000673.2:g.46899915C>T | GRCh38 |
| NC_000011.9:g.46921466C>T , CM000673.1:g.46921466C>T | GRCh37 |
| NC_000011.8:g.46878042C>T | NCBI36 |
| NG_021394.1:g.23708G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.378G>A MANE Select | ENSP00000367888.1:p.Leu126= | |
| ENST00000378623.5:c.378G>A | ENSP00000367888.1:p.Leu126= | |
| ENST00000534404.1:c.231G>A | ENSP00000434763.1:p.Leu77= | |
| NM_002334.3:c.378G>A | NP_002325.2:p.Leu126= | |
| XM_011520102.1:c.591G>A | XP_011518404.1:p.Leu197= | |
| XM_017017734.1:c.378G>A | XP_016873223.1:p.Leu126= | |
| NM_002334.4:c.378G>A MANE Select | NP_002325.2:p.Leu126= |