Linked Data
dbSNP Id:
rs1353355905
gnomAD v2:
1-165389175-T-G
gnomAD v3:
1-165419938-T-G
gnomAD v4:
1-165419938-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165419938T>G , CM000663.2:g.165419938T>G | GRCh38 |
| NC_000001.10:g.165389175T>G , CM000663.1:g.165389175T>G | GRCh37 |
| NC_000001.9:g.163655799T>G | NCBI36 |
| NG_029517.1:g.30418A>C | |
| NG_029517.2:g.30418A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359842.10:c.374A>C MANE Select | ENSP00000352900.5:p.Asn125Thr | |
| ENST00000359842.9:c.374A>C | ENSP00000352900.5:p.Asn125Thr | |
| ENST00000470566.1:n.299A>C | ||
| ENST00000619224.1:c.5A>C | ENSP00000482458.1:p.Asn2Thr | |
| NM_001256570.1:c.5A>C | NP_001243499.1:p.Asn2Thr | |
| NM_001256571.1:c.5A>C | NP_001243500.1:p.Asn2Thr | |
| NM_006917.4:c.374A>C | NP_008848.1:p.Asn125Thr | |
| NM_006917.5:c.374A>C MANE Select | NP_008848.1:p.Asn125Thr | |
| NM_001256571.2:c.5A>C | NP_001243500.1:p.Asn2Thr | |
| NM_001256570.2:c.5A>C | NP_001243499.1:p.Asn2Thr |