Linked Data
ClinVar Variation Id:
259997
dbSNP Id:
rs12632942
ExAC:
3:38764998 A / G
gnomAD v2:
3-38764998-A-G
gnomAD v3:
3-38723507-A-G
gnomAD v4:
3-38723507-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38723507A>G , CM000665.2:g.38723507A>G | GRCh38 |
| NC_000003.11:g.38764998A>G , CM000665.1:g.38764998A>G | GRCh37 |
| NC_000003.10:g.38740002A>G | NCBI36 |
| NG_031891.2:g.75504T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449082.3:c.3275T>C MANE Select | ENSP00000390600.2:p.Leu1092Pro | |
| ENST00000643924.1:c.3272T>C | ENSP00000495595.1:p.Leu1091Pro | |
| ENST00000655275.1:c.3299T>C | ENSP00000499510.1:p.Leu1100Pro | |
| ENST00000449082.2:c.3275T>C | ENSP00000390600.2:p.Leu1092Pro | |
| NM_001293306.2:c.3272T>C | NP_001280235.2:p.Leu1091Pro | |
| NM_001293307.2:c.2981T>C | NP_001280236.2:p.Leu994Pro | |
| NM_006514.3:c.3275T>C | NP_006505.3:p.Leu1092Pro | |
| XM_005265371.2:c.3284T>C | XP_005265428.1:p.Leu1095Pro | |
| XM_011533993.1:c.3281T>C | XP_011532295.1:p.Leu1094Pro | |
| XM_011533994.1:c.2990T>C | XP_011532296.1:p.Leu997Pro | |
| XM_005265371.3:c.3284T>C | XP_005265428.1:p.Leu1095Pro | |
| XM_011533993.2:c.3281T>C | XP_011532295.1:p.Leu1094Pro | |
| XM_011533994.2:c.2990T>C | XP_011532296.1:p.Leu997Pro | |
| NM_006514.4:c.3275T>C MANE Select | NP_006505.4:p.Leu1092Pro |