Linked Data
ClinVar Variation Id:
356793
dbSNP Id:
rs562040179
ExAC:
6:42932139 T / C
gnomAD v2:
6-42932139-T-C
gnomAD v4:
6-42964401-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42964401T>C , CM000668.2:g.42964401T>C | GRCh38 |
| NC_000006.11:g.42932139T>C , CM000668.1:g.42932139T>C | GRCh37 |
| NC_000006.10:g.43040117T>C | NCBI36 |
| NG_008370.1:g.19843A>G | |
| NG_008396.1:g.8640T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2877A>G MANE Select | ENSP00000303511.8:p.Gln959= | |
| ENST00000244546.4:c.2630A>G | ENSP00000244546.4:n.2630A>G | |
| ENST00000304611.12:c.2877A>G | ENSP00000303511.8:p.Gln959= | |
| NM_000287.3:c.2877A>G | NP_000278.3:p.Gln959= | |
| NM_001316313.1:c.2613A>G | NP_001303242.1:p.Gln871= | |
| NR_133009.1:n.2723A>G | ||
| XM_011514661.1:c.2793A>G | XP_011512963.1:p.Gln931= | |
| XM_011514661.2:c.2793A>G | XP_011512963.1:p.Gln931= | |
| XR_001743466.2:n.3839A>G | ||
| NM_000287.4:c.2877A>G MANE Select | NP_000278.3:p.Gln959= | |
| NM_001316313.2:c.2613A>G | NP_001303242.1:p.Gln871= | |
| NR_133009.2:n.2661A>G |