Linked Data
ClinVar Variation Id:
6953
ClinVar RCV Id:
RCV000007368
dbSNP Id:
rs121908968
gnomAD v4:
17-18124558-C-T
PubMed:
PMID:11735029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18124558C>T , CM000679.2:g.18124558C>T | GRCh38 |
| NC_000017.10:g.18027872C>T , CM000679.1:g.18027872C>T | GRCh37 |
| NC_000017.9:g.17968597C>T | NCBI36 |
| NG_011634.1:g.20853C>T | |
| NG_011634.2:g.20853C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647165.2:c.3685C>T MANE Select | ENSP00000495481.1:p.Gln1229Ter | |
| ENST00000651088.1:c.226C>T | ENSP00000498988.1:p.Gln76Ter | |
| ENST00000205890.9:c.3685C>T | ENSP00000205890.5:p.Gln1229Ter | |
| ENST00000583079.1:n.5391C>T | ||
| ENST00000615845.4:c.3685C>T | ENSP00000481642.1:p.Gln1229Ter | |
| NM_016239.3:c.3685C>T | NP_057323.3:p.Gln1229Ter | |
| XM_011523917.1:c.3685C>T | XP_011522219.1:p.Gln1229Ter | |
| XM_011523918.1:c.3685C>T | XP_011522220.1:p.Gln1229Ter | |
| XM_011523919.1:c.3685C>T | XP_011522221.1:p.Gln1229Ter | |
| XM_011523920.1:c.3685C>T | XP_011522222.1:p.Gln1229Ter | |
| XM_011523921.1:c.3685C>T | XP_011522223.1:p.Gln1229Ter | |
| XR_934037.1:n.4344C>T | ||
| XR_934038.1:n.4344C>T | ||
| XR_934039.1:n.4344C>T | ||
| XM_011523918.2:c.3685C>T | XP_011522220.1:p.Gln1229Ter | |
| XM_017024714.2:c.3685C>T | XP_016880203.1:p.Gln1229Ter | |
| XM_017024715.2:c.3685C>T | XP_016880204.1:p.Gln1229Ter | |
| XM_024450780.1:c.3685C>T | XP_024306548.1:p.Gln1229Ter | |
| XM_024450781.1:c.3685C>T | XP_024306549.1:p.Gln1229Ter | |
| XM_024450782.1:c.3685C>T | XP_024306550.1:p.Gln1229Ter | |
| XR_934039.2:n.4383C>T | ||
| NM_016239.4:c.3685C>T MANE Select | NP_057323.3:p.Gln1229Ter |