Linked Data
ClinVar Variation Id:
1441176
ClinVar RCV Id:
RCV001979046
dbSNP Id:
rs745667542
ExAC:
17:18049203 C / T
gnomAD v2:
17-18049203-C-T
gnomAD v4:
17-18145889-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18145889C>T , CM000679.2:g.18145889C>T | GRCh38 |
| NC_000017.10:g.18049203C>T , CM000679.1:g.18049203C>T | GRCh37 |
| NC_000017.9:g.17989928C>T | NCBI36 |
| NG_011634.1:g.42184C>T | |
| NG_011634.2:g.42184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6291C>T MANE Select | ENSP00000495481.1:p.Gly2097= | |
| ENST00000205890.9:c.6291C>T | ENSP00000205890.5:p.Gly2097= | |
| ENST00000615845.4:c.6291C>T | ENSP00000481642.1:p.Gly2097= | |
| NM_016239.3:c.6291C>T | NP_057323.3:p.Gly2097= | |
| XM_011523917.1:c.6231C>T | XP_011522219.1:p.Gly2077= | |
| XM_011523918.1:c.6231C>T | XP_011522220.1:p.Gly2077= | |
| XM_011523921.1:c.6285C>T | XP_011522223.1:p.Gly2095= | |
| XR_934037.1:n.6890C>T | ||
| XR_934038.1:n.6890C>T | ||
| XM_011523918.2:c.6231C>T | XP_011522220.1:p.Gly2077= | |
| XM_017024714.2:c.6231C>T | XP_016880203.1:p.Gly2077= | |
| XM_017024715.2:c.6294C>T | XP_016880204.1:p.Gly2098= | |
| XM_024450781.1:c.6213+1297C>T | XP_024306549.1:n.6213+1297C>T | |
| NM_016239.4:c.6291C>T MANE Select | NP_057323.3:p.Gly2097= |