Linked Data
ClinVar Variation Id:
1338933
dbSNP Id:
rs370756193
ExAC:
17:18049268 C / T
gnomAD v2:
17-18049268-C-T
gnomAD v3:
17-18145954-C-T
gnomAD v4:
17-18145954-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18145954C>T , CM000679.2:g.18145954C>T | GRCh38 |
| NC_000017.10:g.18049268C>T , CM000679.1:g.18049268C>T | GRCh37 |
| NC_000017.9:g.17989993C>T | NCBI36 |
| NG_011634.1:g.42249C>T | |
| NG_011634.2:g.42249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6356C>T MANE Select | ENSP00000495481.1:p.Ala2119Val | |
| ENST00000205890.9:c.6356C>T | ENSP00000205890.5:p.Ala2119Val | |
| ENST00000615845.4:c.6356C>T | ENSP00000481642.1:p.Ala2119Val | |
| NM_016239.3:c.6356C>T | NP_057323.3:p.Ala2119Val | |
| XM_011523917.1:c.6296C>T | XP_011522219.1:p.Ala2099Val | |
| XM_011523918.1:c.6296C>T | XP_011522220.1:p.Ala2099Val | |
| XM_011523921.1:c.6350C>T | XP_011522223.1:p.Ala2117Val | |
| XR_934037.1:n.6955C>T | ||
| XR_934038.1:n.6955C>T | ||
| XM_011523918.2:c.6296C>T | XP_011522220.1:p.Ala2099Val | |
| XM_017024714.2:c.6296C>T | XP_016880203.1:p.Ala2099Val | |
| XM_017024715.2:c.6359C>T | XP_016880204.1:p.Ala2120Val | |
| XM_024450781.1:c.6213+1362C>T | XP_024306549.1:n.6213+1362C>T | |
| NM_016239.4:c.6356C>T MANE Select | NP_057323.3:p.Ala2119Val |