Linked Data
ClinVar Variation Id:
775755
ClinVar RCV Id:
RCV000955962
dbSNP Id:
rs75071385
ExAC:
2:120221767 G / A
gnomAD v2:
2-120221767-G-A
gnomAD v3:
2-119464191-G-A
gnomAD v4:
2-119464191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.119464191G>A , CM000664.2:g.119464191G>A | GRCh38 |
| NC_000002.11:g.120221767G>A , CM000664.1:g.120221767G>A | GRCh37 |
| NC_000002.10:g.119938237G>A | NCBI36 |
| NG_029904.1:g.65262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000019103.8:c.568C>T MANE Select | ENSP00000019103.6:p.Leu190= | |
| ENST00000019103.7:c.568C>T | ENSP00000019103.5:p.Leu190= | |
| ENST00000485440.1:n.1248C>T | ||
| ENST00000627145.1:c.643C>T | ENSP00000486987.1:p.Leu215= | |
| ENST00000630739.2:c.364C>T | ENSP00000486930.1:p.Leu122= | |
| NM_002980.2:c.568C>T | NP_002971.2:p.Leu190= | |
| XM_005263730.3:c.34C>T | XP_005263787.1:p.Leu12= | |
| XM_006712683.2:c.568C>T | XP_006712746.1:p.Leu190= | |
| XM_011511620.1:c.568C>T | XP_011509922.1:p.Leu190= | |
| XM_011511621.1:c.568C>T | XP_011509923.1:p.Leu190= | |
| XM_011511622.1:c.460C>T | XP_011509924.1:p.Leu154= | |
| XM_011511623.1:c.364C>T | XP_011509925.1:p.Leu122= | |
| XM_011511624.1:c.34C>T | XP_011509926.1:p.Leu12= | |
| XR_922982.1:n.794C>T | ||
| XR_922983.1:n.794C>T | ||
| XR_922984.1:n.794C>T | ||
| XM_005263730.5:c.34C>T | XP_005263787.1:p.Leu12= | |
| XM_011511621.2:c.568C>T | XP_011509923.1:p.Leu190= | |
| XM_017004670.1:c.538C>T | XP_016860159.1:p.Leu180= | |
| XM_017004671.1:c.460C>T | XP_016860160.1:p.Leu154= | |
| XM_017004672.1:c.364C>T | XP_016860161.1:p.Leu122= | |
| XM_017004673.1:c.34C>T | XP_016860162.1:p.Leu12= | |
| XM_024453038.1:c.364C>T | XP_024308806.1:p.Leu122= | |
| XR_001738887.1:n.794C>T | ||
| XR_001738888.1:n.794C>T | ||
| XR_001738889.1:n.794C>T | ||
| XR_922984.2:n.794C>T | ||
| NM_002980.3:c.568C>T MANE Select | NP_002971.2:p.Leu190= |