Linked Data
ClinVar Variation Id:
516249
dbSNP Id:
rs374633807
ExAC:
17:7125013 C / A
gnomAD v2:
17-7125013-C-A
gnomAD v3:
17-7221694-C-A
gnomAD v4:
17-7221694-C-A
ERepo:
CA8337772/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221694C>A , CM000679.2:g.7221694C>A | GRCh38 |
| NC_000017.10:g.7125013C>A , CM000679.1:g.7125013C>A | GRCh37 |
| NC_000017.9:g.7065737C>A | NCBI36 |
| NG_007975.1:g.6861C>A | |
| NG_008391.2:g.3357G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.622+12C>A MANE Select | ENSP00000349297.5:n.622+12C>A | |
| ENST00000322910.9:c.*577+12C>A | ENSP00000325395.5:n.*577+12C>A | |
| ENST00000350303.9:c.556+12C>A | ENSP00000344152.5:n.556+12C>A | |
| ENST00000356839.9:c.622+12C>A | ENSP00000349297.5:n.622+12C>A | |
| ENST00000543245.6:c.691+12C>A | ENSP00000438689.2:n.691+12C>A | |
| ENST00000577191.5:n.699+12C>A | ||
| ENST00000577857.5:n.438+12C>A | ||
| ENST00000579286.5:n.803+12C>A | ||
| ENST00000579886.2:c.460+12C>A | ENSP00000463246.1:n.460+12C>A | |
| ENST00000580365.1:n.353+12C>A | ||
| ENST00000581378.5:c.340+12C>A | ||
| ENST00000581562.5:n.525-258C>A | ||
| ENST00000583312.5:c.622+12C>A | ENSP00000467920.1:n.622+12C>A | |
| ENST00000583760.1:n.404+12C>A | ||
| NM_000018.3:c.622+12C>A | NP_000009.1:n.622+12C>A | |
| NM_001033859.2:c.556+12C>A | NP_001029031.1:n.556+12C>A | |
| NM_001270447.1:c.691+12C>A | NP_001257376.1:n.691+12C>A | |
| NM_001270448.1:c.394+12C>A | NP_001257377.1:n.394+12C>A | |
| XM_006721516.2:c.622+12C>A | XP_006721579.2:n.622+12C>A | |
| XM_011523829.1:c.622+12C>A | XP_011522131.1:n.622+12C>A | |
| XM_011523830.1:c.622+12C>A | XP_011522132.1:n.622+12C>A | |
| XR_934021.1:n.729+12C>A | ||
| XR_934022.1:n.729+12C>A | ||
| XR_934023.1:n.729+12C>A | ||
| XM_006721516.3:c.622+12C>A | XP_006721579.2:n.622+12C>A | |
| XM_011523829.2:c.622+12C>A | XP_011522131.1:n.622+12C>A | |
| XM_011523830.2:c.622+12C>A | XP_011522132.1:n.622+12C>A | |
| XM_024450741.1:c.622+12C>A | XP_024306509.1:n.622+12C>A | |
| XR_934021.2:n.681+12C>A | ||
| XR_934022.2:n.681+12C>A | ||
| XR_934023.2:n.681+12C>A | ||
| NM_000018.4:c.622+12C>A MANE Select | NP_000009.1:n.622+12C>A | |
| NM_001033859.3:c.556+12C>A | NP_001029031.1:n.556+12C>A | |
| NM_001270447.2:c.691+12C>A | NP_001257376.1:n.691+12C>A | |
| NM_001270448.2:c.394+12C>A | NP_001257377.1:n.394+12C>A |