Linked Data
ClinVar Variation Id:
499856
dbSNP Id:
rs1360001006
gnomAD v3:
6-42969673-C-T
gnomAD v4:
6-42969673-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42969673C>T , CM000668.2:g.42969673C>T | GRCh38 |
| NC_000006.11:g.42937411C>T , CM000668.1:g.42937411C>T | GRCh37 |
| NC_000006.10:g.43045389C>T | NCBI36 |
| NG_008370.1:g.14571G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1362G>A MANE Select | ENSP00000303511.8:p.Gln454= | |
| ENST00000244546.4:c.1362G>A | ENSP00000244546.4:p.Gln454= | |
| ENST00000304611.12:c.1362G>A | ENSP00000303511.8:p.Gln454= | |
| NM_000287.3:c.1362G>A | NP_000278.3:p.Gln454= | |
| NM_001316313.1:c.1098G>A | NP_001303242.1:p.Gln366= | |
| NR_133009.1:n.1455G>A | ||
| XM_011514661.1:c.1278G>A | XP_011512963.1:p.Gln426= | |
| XR_926246.1:n.1455G>A | ||
| XM_011514661.2:c.1278G>A | XP_011512963.1:p.Gln426= | |
| XR_001743466.2:n.2436G>A | ||
| NM_000287.4:c.1362G>A MANE Select | NP_000278.3:p.Gln454= | |
| NM_001316313.2:c.1098G>A | NP_001303242.1:p.Gln366= | |
| NR_133009.2:n.1393G>A |