Linked Data
dbSNP Id:
rs1328107166
gnomAD v2:
1-158582751-C-G
gnomAD v3:
1-158612961-C-G
gnomAD v4:
1-158612961-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158612961C>G , CM000663.2:g.158612961C>G | GRCh38 |
| NC_000001.10:g.158582751C>G , CM000663.1:g.158582751C>G | GRCh37 |
| NC_000001.9:g.156849375C>G | NCBI36 |
| NG_011474.1:g.78756G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.6990G>C MANE Select | ENSP00000495214.1:p.Arg2330Ser | |
| ENST00000368147.8:c.6990G>C | ENSP00000357129.4:p.Arg2330Ser | |
| ENST00000481212.5:n.431G>C | ||
| ENST00000498708.1:n.422G>C | ||
| ENST00000614909.4:c.6990G>C | ENSP00000482595.1:p.Arg2330Ser | |
| NM_003126.2:c.6990G>C | NP_003117.2:p.Arg2330Ser | |
| XM_011509916.1:c.6990G>C | XP_011508218.1:p.Arg2330Ser | |
| XM_011509917.1:c.6972G>C | XP_011508219.1:p.Arg2324Ser | |
| NM_003126.3:c.6990G>C | NP_003117.2:p.Arg2330Ser | |
| XM_011509916.2:c.6990G>C | XP_011508218.1:p.Arg2330Ser | |
| XM_011509917.3:c.6972G>C | XP_011508219.1:p.Arg2324Ser | |
| NM_003126.4:c.6990G>C MANE Select | NP_003117.2:p.Arg2330Ser |