Linked Data
dbSNP Id:
rs368373229
ExAC:
1:171621202 G / C
gnomAD v2:
1-171621202-G-C
gnomAD v3:
1-171652062-G-C
gnomAD v4:
1-171652062-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652062G>C , CM000663.2:g.171652062G>C | GRCh38 |
| NC_000001.10:g.171621202G>C , CM000663.1:g.171621202G>C | GRCh37 |
| NC_000001.9:g.169887825G>C | NCBI36 |
| NG_008859.1:g.5572C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.550C>G MANE Select | ENSP00000037502.5:p.Gln184Glu | |
| ENST00000638471.1:c.130+420C>G | ENSP00000491206.1:n.130+420C>G | |
| ENST00000037502.10:c.550C>G | ENSP00000037502.5:p.Gln184Glu | |
| ENST00000614688.1:c.550C>G | ENSP00000478680.1:p.Gln184Glu | |
| NM_000261.1:c.550C>G | NP_000252.1:p.Gln184Glu | |
| NM_000261.2:c.550C>G MANE Select | NP_000252.1:p.Gln184Glu |