Linked Data
dbSNP Id:
rs140017103
ExAC:
1:171621448 A / G
gnomAD v2:
1-171621448-A-G
gnomAD v3:
1-171652308-A-G
gnomAD v4:
1-171652308-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652308A>G , CM000663.2:g.171652308A>G | GRCh38 |
| NC_000001.10:g.171621448A>G , CM000663.1:g.171621448A>G | GRCh37 |
| NC_000001.9:g.169888071A>G | NCBI36 |
| NG_008859.1:g.5326T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.304T>C MANE Select | ENSP00000037502.5:p.Leu102= | |
| ENST00000638471.1:c.130+174T>C | ENSP00000491206.1:n.130+174T>C | |
| ENST00000037502.10:c.304T>C | ENSP00000037502.5:p.Leu102= | |
| ENST00000614688.1:c.304T>C | ENSP00000478680.1:p.Leu102= | |
| NM_000261.1:c.304T>C | NP_000252.1:p.Leu102= | |
| NM_000261.2:c.304T>C MANE Select | NP_000252.1:p.Leu102= |