Linked Data
ClinVar Variation Id:
281492
dbSNP Id:
rs766104579
gnomAD v3:
6-42966394-C-T
gnomAD v4:
6-42966394-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42966394C>T , CM000668.2:g.42966394C>T | GRCh38 |
| NC_000006.11:g.42934132C>T , CM000668.1:g.42934132C>T | GRCh37 |
| NC_000006.10:g.43042110C>T | NCBI36 |
| NG_008370.1:g.17850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2148G>A MANE Select | ENSP00000303511.8:p.Glu716= | |
| ENST00000244546.4:c.2115+110G>A | ENSP00000244546.4:n.2115+110G>A | |
| ENST00000304611.12:c.2148G>A | ENSP00000303511.8:p.Glu716= | |
| NM_000287.3:c.2148G>A | NP_000278.3:p.Glu716= | |
| NM_001316313.1:c.1884G>A | NP_001303242.1:p.Glu628= | |
| NR_133009.1:n.2208+110G>A | ||
| XM_011514661.1:c.2064G>A | XP_011512963.1:p.Glu688= | |
| XM_011514661.2:c.2064G>A | XP_011512963.1:p.Glu688= | |
| XR_001743466.2:n.3110G>A | ||
| NM_000287.4:c.2148G>A MANE Select | NP_000278.3:p.Glu716= | |
| NM_001316313.2:c.1884G>A | NP_001303242.1:p.Glu628= | |
| NR_133009.2:n.2146+110G>A |