Linked Data
ClinVar Variation Id:
2122764
ClinVar RCV Id:
RCV003054213
dbSNP Id:
rs147378906
gnomAD v2:
17-44109631-G-C
gnomAD v4:
17-46032265-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46032265G>C , CM000679.2:g.46032265G>C | GRCh38 |
| NC_000017.10:g.44109631G>C , CM000679.1:g.44109631G>C | GRCh37 |
| NC_000017.9:g.41465478G>C | NCBI36 |
| NG_032784.1:g.198110C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432791.7:c.2872C>G MANE Select | ENSP00000387393.3:p.Gln958Glu | |
| ENST00000572904.6:c.2872C>G | ENSP00000461484.1:p.Gln958Glu | |
| ENST00000574590.6:c.2869C>G | ENSP00000461812.2:p.Gln957Glu | |
| ENST00000575318.6:c.2680C>G | ENSP00000461299.1:p.Gln894Glu | |
| ENST00000638275.1:c.2680C>G | ENSP00000492576.1:p.Gln894Glu | |
| ENST00000638291.1:n.700C>G | ||
| ENST00000638551.1:n.820C>G | ||
| ENST00000639467.1:c.529C>G | ENSP00000492741.1:p.Gln177Glu | |
| ENST00000639531.1:c.2683C>G | ENSP00000491765.1:p.Gln895Glu | |
| ENST00000639805.1:n.289C>G | ||
| ENST00000648792.1:c.2838-98C>G | ENSP00000497628.1:n.2838-98C>G | |
| ENST00000262419.10:c.2872C>G | ENSP00000262419.6:p.Gln958Glu | |
| ENST00000432791.5:c.2869C>G | ENSP00000387393.2:p.Gln957Glu | |
| ENST00000572218.5:n.7089C>G | ||
| ENST00000572904.5:c.2872C>G | ENSP00000461484.1:p.Gln958Glu | |
| ENST00000573682.1:n.258C>G | ||
| ENST00000574590.5:c.2872C>G | ENSP00000461812.1:p.Gln958Glu | |
| ENST00000574963.1:n.302C>G | ||
| ENST00000575318.5:c.2680C>G | ENSP00000461299.1:p.Gln894Glu | |
| ENST00000576870.5:n.844C>G | ||
| NM_001193465.1:c.2869C>G | NP_001180394.1:p.Gln957Glu | |
| NM_001193466.1:c.2872C>G | NP_001180395.1:p.Gln958Glu | |
| NM_015443.3:c.2872C>G | NP_056258.1:p.Gln958Glu | |
| XM_006721823.1:c.2872C>G | XP_006721886.1:p.Gln958Glu | |
| XM_006721824.2:c.2872C>G | XP_006721887.1:p.Gln958Glu | |
| XM_011524628.1:c.2869C>G | XP_011522930.1:p.Gln957Glu | |
| XM_011524629.1:c.2770C>G | XP_011522931.1:p.Gln924Glu | |
| XM_011524630.1:c.2683C>G | XP_011522932.1:p.Gln895Glu | |
| XM_011524631.1:c.2680C>G | XP_011522933.1:p.Gln894Glu | |
| XM_011524632.1:c.1642C>G | XP_011522934.1:p.Gln548Glu | |
| XM_006721823.2:c.2872C>G | XP_006721886.1:p.Gln958Glu | |
| XM_006721824.4:c.2872C>G | XP_006721887.1:p.Gln958Glu | |
| XM_011524628.3:c.2869C>G | XP_011522930.1:p.Gln957Glu | |
| XM_011524629.3:c.2770C>G | XP_011522931.1:p.Gln924Glu | |
| XM_011524630.3:c.2683C>G | XP_011522932.1:p.Gln895Glu | |
| XM_011524631.3:c.2680C>G | XP_011522933.1:p.Gln894Glu | |
| XM_011524632.3:c.1642C>G | XP_011522934.1:p.Gln548Glu | |
| XM_017024488.2:c.2680C>G | XP_016879977.1:p.Gln894Glu | |
| NM_001193466.2:c.2872C>G | NP_001180395.1:p.Gln958Glu | |
| NM_015443.4:c.2872C>G MANE Select | NP_056258.1:p.Gln958Glu | |
| NM_001193465.2:c.2869C>G | NP_001180394.1:p.Gln957Glu | |
| NM_001379198.1:c.2872C>G | NP_001366127.1:p.Gln958Glu |