Linked Data
ClinVar Variation Id:
1161719
dbSNP Id:
rs139409107
ExAC:
6:42937513 T / C
gnomAD v2:
6-42937513-T-C
gnomAD v3:
6-42969775-T-C
gnomAD v4:
6-42969775-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42969775T>C , CM000668.2:g.42969775T>C | GRCh38 |
| NC_000006.11:g.42937513T>C , CM000668.1:g.42937513T>C | GRCh37 |
| NC_000006.10:g.43045491T>C | NCBI36 |
| NG_008370.1:g.14469A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1260A>G MANE Select | ENSP00000303511.8:p.Pro420= | |
| ENST00000244546.4:c.1260A>G | ENSP00000244546.4:p.Pro420= | |
| ENST00000304611.12:c.1260A>G | ENSP00000303511.8:p.Pro420= | |
| NM_000287.3:c.1260A>G | NP_000278.3:p.Pro420= | |
| NM_001316313.1:c.996A>G | NP_001303242.1:p.Pro332= | |
| NR_133009.1:n.1353A>G | ||
| XM_011514661.1:c.1176A>G | XP_011512963.1:p.Pro392= | |
| XR_926246.1:n.1353A>G | ||
| XM_011514661.2:c.1176A>G | XP_011512963.1:p.Pro392= | |
| XR_001743466.2:n.2334A>G | ||
| NM_000287.4:c.1260A>G MANE Select | NP_000278.3:p.Pro420= | |
| NM_001316313.2:c.996A>G | NP_001303242.1:p.Pro332= | |
| NR_133009.2:n.1291A>G |