Linked Data
ClinVar Variation Id:
2985754
ClinVar RCV Id:
RCV003841361
dbSNP Id:
rs775069515
ExAC:
17:18062648 C / T
gnomAD v2:
17-18062648-C-T
gnomAD v3:
17-18159334-C-T
gnomAD v4:
17-18159334-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18159334C>T , CM000679.2:g.18159334C>T | GRCh38 |
| NC_000017.10:g.18062648C>T , CM000679.1:g.18062648C>T | GRCh37 |
| NC_000017.9:g.18003373C>T | NCBI36 |
| NG_011634.1:g.55629C>T | |
| NG_011634.2:g.55629C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.1554C>T | ||
| ENST00000643693.1:n.1018C>T | ||
| ENST00000644795.1:c.1008C>T | ENSP00000495720.1:p.Thr336= | |
| ENST00000646782.1:n.1950C>T | ||
| ENST00000647165.2:c.9216C>T MANE Select | ENSP00000495481.1:p.Thr3072= | |
| ENST00000651214.1:n.1721C>T | ||
| ENST00000205890.9:c.9216C>T | ENSP00000205890.5:p.Thr3072= | |
| ENST00000418233.7:c.1008C>T | ENSP00000408800.3:p.Thr336= | |
| ENST00000433411.7:n.153C>T | ||
| ENST00000445289.6:n.316+1434C>T | ||
| ENST00000556535.5:c.78C>T | ENSP00000451782.1:p.Thr26= | |
| ENST00000557190.5:n.118C>T | ||
| ENST00000557655.5:c.78C>T | ENSP00000451925.1:p.Thr26= | |
| ENST00000578472.5:c.78C>T | ENSP00000467989.1:p.Thr26= | |
| ENST00000615845.4:c.9216C>T | ENSP00000481642.1:p.Thr3072= | |
| NM_016239.3:c.9216C>T | NP_057323.3:p.Thr3072= | |
| XM_011523921.1:c.9210C>T | XP_011522223.1:p.Thr3070= | |
| XM_017024714.2:c.9156C>T | XP_016880203.1:p.Thr3052= | |
| XM_017024715.2:c.9219C>T | XP_016880204.1:p.Thr3073= | |
| NM_016239.4:c.9216C>T MANE Select | NP_057323.3:p.Thr3072= |