Linked Data
ClinVar Variation Id:
2079437
ClinVar RCV Id:
RCV002995374
dbSNP Id:
rs778261236
ExAC:
3:136059335 G / A
gnomAD v2:
3-136059335-G-A
gnomAD v3:
3-136340493-G-A
gnomAD v4:
3-136340493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136340493G>A , CM000665.2:g.136340493G>A | GRCh38 |
| NC_000003.11:g.136059335G>A , CM000665.1:g.136059335G>A | GRCh37 |
| NC_000003.10:g.137542025G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383202.7:c.3670C>T MANE Select | ENSP00000372689.2:p.Leu1224= | |
| ENST00000236698.9:c.3559C>T | ENSP00000236698.5:p.Leu1187= | |
| ENST00000383202.6:c.3670C>T | ENSP00000372689.2:p.Leu1224= | |
| ENST00000434713.6:c.2890C>T | ENSP00000404396.2:p.Leu964= | |
| ENST00000483235.5:c.*3660C>T | ENSP00000419093.1:n.*3660C>T | |
| ENST00000629124.2:c.*3309C>T | ENSP00000486745.1:n.*3309C>T | |
| NM_005862.2:c.3670C>T | NP_005853.2:p.Leu1224= | |
| XM_011512329.1:c.3259C>T | XP_011510631.1:p.Leu1087= | |
| XM_011512330.1:c.3259C>T | XP_011510632.1:p.Leu1087= | |
| XM_011512331.1:c.3259C>T | XP_011510633.1:p.Leu1087= | |
| XM_011512332.1:c.2992C>T | XP_011510634.1:p.Leu998= | |
| XM_011512333.1:c.3259C>T | XP_011510635.1:p.Leu1087= | |
| XM_011512329.2:c.3259C>T | XP_011510631.1:p.Leu1087= | |
| XM_011512331.2:c.3259C>T | XP_011510633.1:p.Leu1087= | |
| XM_017005523.1:c.3259C>T | XP_016861012.1:p.Leu1087= | |
| XM_017005524.2:c.2992C>T | XP_016861013.1:p.Leu998= | |
| XM_017005525.1:c.2359C>T | XP_016861014.1:p.Leu787= | |
| NM_005862.3:c.3670C>T MANE Select | NP_005853.2:p.Leu1224= |