Linked Data
ClinVar Variation Id:
517711
dbSNP Id:
rs532543210
ExAC:
2:16082615 C / T
gnomAD v2:
2-16082615-C-T
gnomAD v3:
2-15942493-C-T
gnomAD v4:
2-15942493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15942493C>T , CM000664.2:g.15942493C>T | GRCh38 |
| NC_000002.11:g.16082615C>T , CM000664.1:g.16082615C>T | GRCh37 |
| NC_000002.10:g.16000066C>T | NCBI36 |
| NG_007457.1:g.6933C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281043.4:c.429C>T MANE Select | ENSP00000281043.3:p.Ala143= | |
| ENST00000638417.1:c.157+1750C>T | ENSP00000491476.1:n.157+1750C>T | |
| ENST00000281043.3:c.429C>T | ENSP00000281043.3:p.Ala143= | |
| NM_001293228.1:c.429C>T | NP_001280157.1:p.Ala143= | |
| NM_001293231.1:c.157+1750C>T | NP_001280160.1:n.157+1750C>T | |
| NM_001293233.1:c.*364C>T | NP_001280162.1:n.*364C>T | |
| NM_005378.5:c.429C>T | NP_005369.2:p.Ala143= | |
| NM_005378.6:c.429C>T MANE Select | NP_005369.2:p.Ala143= | |
| NM_001293228.2:c.429C>T | NP_001280157.1:p.Ala143= | |
| NM_001293231.2:c.157+1750C>T | NP_001280160.1:n.157+1750C>T | |
| NM_001293233.2:c.*364C>T | NP_001280162.1:n.*364C>T |