Linked Data
dbSNP Id:
rs1653375432
gnomAD v3:
1-171652306-C-T
gnomAD v4:
1-171652306-C-T
MyVariant Identifiers:
chr1:g.171621446C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652306C>T , CM000663.2:g.171652306C>T | GRCh38 |
| NC_000001.10:g.171621446C>T , CM000663.1:g.171621446C>T | GRCh37 |
| NC_000001.9:g.169888069C>T | NCBI36 |
| NG_008859.1:g.5328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.306G>A MANE Select | ENSP00000037502.5:p.Leu102= | |
| ENST00000638471.1:c.130+176G>A | ENSP00000491206.1:n.130+176G>A | |
| ENST00000037502.10:c.306G>A | ENSP00000037502.5:p.Leu102= | |
| ENST00000614688.1:c.306G>A | ENSP00000478680.1:p.Leu102= | |
| NM_000261.1:c.306G>A | NP_000252.1:p.Leu102= | |
| NM_000261.2:c.306G>A MANE Select | NP_000252.1:p.Leu102= |