Linked Data
ClinVar Variation Id:
517823
dbSNP Id:
rs9538494
ExAC:
13:60240961 C / T
gnomAD v2:
13-60240961-C-T
gnomAD v3:
13-59666827-C-T
gnomAD v4:
13-59666827-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.59666827C>T , CM000675.2:g.59666827C>T | GRCh38 |
| NC_000013.10:g.60240961C>T , CM000675.1:g.60240961C>T | GRCh37 |
| NC_000013.9:g.59138962C>T | NCBI36 |
| NG_032693.1:g.502159G>A | |
| NG_032693.2:g.502159G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400324.9:c.3339G>A MANE Select | ENSP00000383178.3:p.Leu1113= | |
| ENST00000649952.1:n.203G>A | ||
| ENST00000377908.6:c.3306G>A | ENSP00000367141.2:p.Leu1102= | |
| ENST00000400319.5:c.3129G>A | ENSP00000383173.1:p.Leu1043= | |
| ENST00000400320.5:c.3201G>A | ENSP00000383174.1:p.Leu1067= | |
| ENST00000400324.8:c.3339G>A | ENSP00000383178.3:p.Leu1113= | |
| ENST00000470420.1:n.382G>A | ||
| NM_001042517.1:c.3339G>A | NP_001035982.1:p.Leu1113= | |
| NM_001258366.1:c.3306G>A | NP_001245295.1:p.Leu1102= | |
| NM_001258367.1:c.3201G>A | NP_001245296.1:p.Leu1067= | |
| NM_001258368.1:c.3129G>A | NP_001245297.1:p.Leu1043= | |
| XM_006719876.1:c.2550G>A | XP_006719939.1:p.Leu850= | |
| XM_011535261.1:c.3129G>A | XP_011533563.1:p.Leu1043= | |
| XM_011535262.1:c.2550G>A | XP_011533564.1:p.Leu850= | |
| XR_942000.1:n.152+7043C>T | ||
| XR_002957479.1:n.7998G>A | ||
| NM_001042517.2:c.3339G>A MANE Select | NP_001035982.1:p.Leu1113= | |
| NM_001258366.2:c.3306G>A | NP_001245295.1:p.Leu1102= | |
| NM_001258367.2:c.3201G>A | NP_001245296.1:p.Leu1067= | |
| NM_001258368.2:c.3129G>A | NP_001245297.1:p.Leu1043= |