Linked Data
ClinVar Variation Id:
444665
dbSNP Id:
rs1161389116
gnomAD v2:
5-149263044-G-A
gnomAD v4:
5-149883481-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149883481G>A , CM000667.2:g.149883481G>A | GRCh38 |
| NC_000005.9:g.149263044G>A , CM000667.1:g.149263044G>A | GRCh37 |
| NC_000005.8:g.149243237G>A | NCBI36 |
| NG_009102.1:g.66313C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.2083C>T MANE Select | ENSP00000255266.5:p.Gln695Ter | |
| ENST00000255266.9:c.2083C>T | ENSP00000255266.5:p.Gln695Ter | |
| ENST00000508173.5:n.2267C>T | ||
| ENST00000613228.1:c.1840C>T | ENSP00000478060.1:p.Gln614Ter | |
| ENST00000617647.4:c.1840C>T | ENSP00000482774.1:p.Gln614Ter | |
| NM_000440.2:c.2083C>T | NP_000431.2:p.Gln695Ter | |
| XM_011537648.1:c.2083C>T | XP_011535950.1:p.Gln695Ter | |
| XM_011537649.1:c.1537C>T | XP_011535951.1:p.Gln513Ter | |
| XM_011537650.1:c.1198C>T | XP_011535952.1:p.Gln400Ter | |
| XM_011537651.1:c.1036C>T | XP_011535953.1:p.Gln346Ter | |
| XM_011537652.1:c.1006C>T | XP_011535954.1:p.Gln336Ter | |
| XM_011537653.1:c.1006C>T | XP_011535955.1:p.Gln336Ter | |
| XM_011537654.1:c.1006C>T | XP_011535956.1:p.Gln336Ter | |
| XM_011537650.2:c.1198C>T | XP_011535952.1:p.Gln400Ter | |
| XM_011537651.2:c.1036C>T | XP_011535953.1:p.Gln346Ter | |
| XM_011537653.2:c.1006C>T | XP_011535955.1:p.Gln336Ter | |
| XM_011537654.2:c.1006C>T | XP_011535956.1:p.Gln336Ter | |
| XM_017009572.2:c.1840C>T | XP_016865061.1:p.Gln614Ter | |
| NM_000440.3:c.2083C>T MANE Select | NP_000431.2:p.Gln695Ter |