Linked Data
ClinVar Variation Id:
2000308
ClinVar RCV Id:
RCV002824428
dbSNP Id:
rs1423519889
gnomAD v2:
17-7125577-G-A
gnomAD v4:
17-7222258-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222258G>A , CM000679.2:g.7222258G>A | GRCh38 |
| NC_000017.10:g.7125577G>A , CM000679.1:g.7125577G>A | GRCh37 |
| NC_000017.9:g.7066301G>A | NCBI36 |
| NG_007975.1:g.7425G>A | |
| NG_008391.2:g.2793C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.834G>A MANE Select | ENSP00000349297.5:p.Lys278= | |
| ENST00000322910.9:c.*789G>A | ENSP00000325395.5:n.*789G>A | |
| ENST00000350303.9:c.768G>A | ENSP00000344152.5:p.Lys256= | |
| ENST00000356839.9:c.834G>A | ENSP00000349297.5:p.Lys278= | |
| ENST00000543245.6:c.903G>A | ENSP00000438689.2:p.Lys301= | |
| ENST00000577191.5:n.1006G>A | ||
| ENST00000581378.5:c.552G>A | ||
| ENST00000582379.1:n.218G>A | ||
| NM_000018.3:c.834G>A | NP_000009.1:p.Lys278= | |
| NM_001033859.2:c.768G>A | NP_001029031.1:p.Lys256= | |
| NM_001270447.1:c.903G>A | NP_001257376.1:p.Lys301= | |
| NM_001270448.1:c.606G>A | NP_001257377.1:p.Lys202= | |
| XM_006721516.2:c.834G>A | XP_006721579.2:p.Lys278= | |
| XM_011523829.1:c.834G>A | XP_011522131.1:p.Lys278= | |
| XM_011523830.1:c.834G>A | XP_011522132.1:p.Lys278= | |
| XR_934021.1:n.941G>A | ||
| XR_934022.1:n.941G>A | ||
| XR_934023.1:n.941G>A | ||
| XM_006721516.3:c.834G>A | XP_006721579.2:p.Lys278= | |
| XM_011523829.2:c.834G>A | XP_011522131.1:p.Lys278= | |
| XM_011523830.2:c.834G>A | XP_011522132.1:p.Lys278= | |
| XM_024450741.1:c.834G>A | XP_024306509.1:p.Lys278= | |
| XR_934021.2:n.893G>A | ||
| XR_934022.2:n.893G>A | ||
| XR_934023.2:n.893G>A | ||
| NM_000018.4:c.834G>A MANE Select | NP_000009.1:p.Lys278= | |
| NM_001033859.3:c.768G>A | NP_001029031.1:p.Lys256= | |
| NM_001270447.2:c.903G>A | NP_001257376.1:p.Lys301= | |
| NM_001270448.2:c.606G>A | NP_001257377.1:p.Lys202= |