Linked Data
dbSNP Id:
rs561439247
ExAC:
1:171621582 T / C
gnomAD v2:
1-171621582-T-C
gnomAD v3:
1-171652442-T-C
gnomAD v4:
1-171652442-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652442T>C , CM000663.2:g.171652442T>C | GRCh38 |
| NC_000001.10:g.171621582T>C , CM000663.1:g.171621582T>C | GRCh37 |
| NC_000001.9:g.169888205T>C | NCBI36 |
| NG_008859.1:g.5192A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.170A>G MANE Select | ENSP00000037502.5:p.Asn57Ser | |
| ENST00000638471.1:c.130+40A>G | ENSP00000491206.1:n.130+40A>G | |
| ENST00000037502.10:c.170A>G | ENSP00000037502.5:p.Asn57Ser | |
| ENST00000614688.1:c.170A>G | ENSP00000478680.1:p.Asn57Ser | |
| NM_000261.1:c.170A>G | NP_000252.1:p.Asn57Ser | |
| NM_000261.2:c.170A>G MANE Select | NP_000252.1:p.Asn57Ser |