Linked Data
ClinVar Variation Id:
1105340
dbSNP Id:
rs376327318
ExAC:
2:169853172 G / A
gnomAD v2:
2-169853172-G-A
gnomAD v3:
2-168996662-G-A
gnomAD v4:
2-168996662-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168996662G>A , CM000664.2:g.168996662G>A | GRCh38 |
| NC_000002.11:g.169853172G>A , CM000664.1:g.169853172G>A | GRCh37 |
| NC_000002.10:g.169561418G>A | NCBI36 |
| NG_007374.1:g.39662C>T | |
| NG_007374.2:g.39735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650372.1:c.450C>T MANE Select | ENSP00000497931.1:p.Val150= | |
| ENST00000263817.6:c.450C>T | ENSP00000263817.6:p.Val150= | |
| NM_003742.2:c.450C>T | NP_003733.2:p.Val150= | |
| XM_006712817.2:c.492C>T | XP_006712880.1:p.Val164= | |
| XM_011512077.1:c.552C>T | XP_011510379.1:p.Val184= | |
| XM_011512078.1:c.552C>T | XP_011510380.1:p.Val184= | |
| XM_011512079.1:c.552C>T | XP_011510381.1:p.Val184= | |
| XM_011512080.1:c.552C>T | XP_011510382.1:p.Val184= | |
| NM_003742.4:c.450C>T MANE Select | NP_003733.2:p.Val150= | |
| XM_006712817.3:c.492C>T | XP_006712880.1:p.Val164= | |
| XM_011512077.2:c.552C>T | XP_011510379.1:p.Val184= | |
| XM_011512078.2:c.552C>T | XP_011510380.1:p.Val184= | |
| XM_011512080.2:c.552C>T | XP_011510382.1:p.Val184= | |
| XM_017005165.1:c.552C>T | XP_016860654.1:p.Val184= |