Linked Data
dbSNP Id:
rs753058077
ExAC:
1:165389237 G / C
gnomAD v2:
1-165389237-G-C
gnomAD v3:
1-165420000-G-C
gnomAD v4:
1-165420000-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165420000G>C , CM000663.2:g.165420000G>C | GRCh38 |
| NC_000001.10:g.165389237G>C , CM000663.1:g.165389237G>C | GRCh37 |
| NC_000001.9:g.163655861G>C | NCBI36 |
| NG_029517.1:g.30356C>G | |
| NG_029517.2:g.30356C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359842.10:c.312C>G MANE Select | ENSP00000352900.5:p.Asn104Lys | |
| ENST00000359842.9:c.312C>G | ENSP00000352900.5:p.Asn104Lys | |
| ENST00000470566.1:n.237C>G | ||
| ENST00000619224.1:c.-58C>G | ENSP00000482458.1:n.-58C>G | |
| NM_001256570.1:c.-58C>G | NP_001243499.1:n.-58C>G | |
| NM_001256571.1:c.-58C>G | NP_001243500.1:n.-58C>G | |
| NM_006917.4:c.312C>G | NP_008848.1:p.Asn104Lys | |
| NM_006917.5:c.312C>G MANE Select | NP_008848.1:p.Asn104Lys | |
| NM_001256571.2:c.-58C>G | NP_001243500.1:n.-58C>G | |
| NM_001256570.2:c.-58C>G | NP_001243499.1:n.-58C>G |