Linked Data
ClinVar Variation Id:
1516803
ClinVar RCV Id:
RCV002026869
dbSNP Id:
rs375104176
ExAC:
11:71941297 A / G
gnomAD v2:
11-71941297-A-G
gnomAD v3:
11-72230253-A-G
gnomAD v4:
11-72230253-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72230253A>G , CM000673.2:g.72230253A>G | GRCh38 |
| NC_000011.9:g.71941297A>G , CM000673.1:g.71941297A>G | GRCh37 |
| NC_000011.8:g.71618945A>G | NCBI36 |
| NG_023253.1:g.10416A>G | |
| NG_023253.2:g.10416A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.1072A>G MANE Select | ENSP00000298229.2:p.Thr358Ala | |
| ENST00000298229.6:c.1072A>G | ENSP00000298229.2:p.Thr358Ala | |
| ENST00000538751.5:c.346A>G | ENSP00000444619.1:p.Thr116Ala | |
| ENST00000540329.5:c.256A>G | ENSP00000440018.1:p.Thr86Ala | |
| ENST00000541756.5:c.874A>G | ENSP00000446360.2:p.Thr292Ala | |
| NM_001567.3:c.1072A>G | NP_001558.3:p.Thr358Ala | |
| XM_005273978.3:c.1138A>G | XP_005274035.1:p.Thr380Ala | |
| XM_005273979.3:c.1138A>G | XP_005274036.1:p.Thr380Ala | |
| XM_011544999.1:c.1072A>G | XP_011543301.1:p.Thr358Ala | |
| XM_011545000.1:c.1138A>G | XP_011543302.1:p.Thr380Ala | |
| XM_005273979.4:c.1138A>G | XP_005274036.1:p.Thr380Ala | |
| XM_011544999.2:c.1072A>G | XP_011543301.1:p.Thr358Ala | |
| XM_024448501.1:c.1138A>G | XP_024304269.1:p.Thr380Ala | |
| XM_024448502.1:c.1138A>G | XP_024304270.1:p.Thr380Ala | |
| XM_024448503.1:c.1108A>G | XP_024304271.1:p.Thr370Ala | |
| XM_024448504.1:c.1072A>G | XP_024304272.1:p.Thr358Ala | |
| XM_024448505.1:c.1138A>G | XP_024304273.1:p.Thr380Ala | |
| NM_001567.4:c.1072A>G MANE Select | NP_001558.3:p.Thr358Ala |