Linked Data
ClinVar Variation Id:
1152627
ClinVar RCV Id:
RCV001494029
dbSNP Id:
rs986417874
gnomAD v3:
17-7222252-G-A
gnomAD v4:
17-7222252-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222252G>A , CM000679.2:g.7222252G>A | GRCh38 |
| NC_000017.10:g.7125571G>A , CM000679.1:g.7125571G>A | GRCh37 |
| NC_000017.9:g.7066295G>A | NCBI36 |
| NG_007975.1:g.7419G>A | |
| NG_008391.2:g.2799C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.828G>A MANE Select | ENSP00000349297.5:p.Lys276= | |
| ENST00000322910.9:c.*783G>A | ENSP00000325395.5:n.*783G>A | |
| ENST00000350303.9:c.762G>A | ENSP00000344152.5:p.Lys254= | |
| ENST00000356839.9:c.828G>A | ENSP00000349297.5:p.Lys276= | |
| ENST00000543245.6:c.897G>A | ENSP00000438689.2:p.Lys299= | |
| ENST00000577191.5:n.1000G>A | ||
| ENST00000581378.5:c.546G>A | ||
| ENST00000582379.1:n.212G>A | ||
| NM_000018.3:c.828G>A | NP_000009.1:p.Lys276= | |
| NM_001033859.2:c.762G>A | NP_001029031.1:p.Lys254= | |
| NM_001270447.1:c.897G>A | NP_001257376.1:p.Lys299= | |
| NM_001270448.1:c.600G>A | NP_001257377.1:p.Lys200= | |
| XM_006721516.2:c.828G>A | XP_006721579.2:p.Lys276= | |
| XM_011523829.1:c.828G>A | XP_011522131.1:p.Lys276= | |
| XM_011523830.1:c.828G>A | XP_011522132.1:p.Lys276= | |
| XR_934021.1:n.935G>A | ||
| XR_934022.1:n.935G>A | ||
| XR_934023.1:n.935G>A | ||
| XM_006721516.3:c.828G>A | XP_006721579.2:p.Lys276= | |
| XM_011523829.2:c.828G>A | XP_011522131.1:p.Lys276= | |
| XM_011523830.2:c.828G>A | XP_011522132.1:p.Lys276= | |
| XM_024450741.1:c.828G>A | XP_024306509.1:p.Lys276= | |
| XR_934021.2:n.887G>A | ||
| XR_934022.2:n.887G>A | ||
| XR_934023.2:n.887G>A | ||
| NM_000018.4:c.828G>A MANE Select | NP_000009.1:p.Lys276= | |
| NM_001033859.3:c.762G>A | NP_001029031.1:p.Lys254= | |
| NM_001270447.2:c.897G>A | NP_001257376.1:p.Lys299= | |
| NM_001270448.2:c.600G>A | NP_001257377.1:p.Lys200= |