Linked Data
gnomAD v4:
1-171652091-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652091C>G , CM000663.2:g.171652091C>G | GRCh38 |
| NC_000001.10:g.171621231C>G , CM000663.1:g.171621231C>G | GRCh37 |
| NC_000001.9:g.169887854C>G | NCBI36 |
| NG_008859.1:g.5543G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.521G>C MANE Select | ENSP00000037502.5:p.Ser174Thr | |
| ENST00000638471.1:c.130+391G>C | ENSP00000491206.1:n.130+391G>C | |
| ENST00000037502.10:c.521G>C | ENSP00000037502.5:p.Ser174Thr | |
| ENST00000614688.1:c.521G>C | ENSP00000478680.1:p.Ser174Thr | |
| NM_000261.1:c.521G>C | NP_000252.1:p.Ser174Thr | |
| NM_000261.2:c.521G>C MANE Select | NP_000252.1:p.Ser174Thr |