Linked Data
ClinVar Variation Id:
555394
ClinVar RCV Id:
RCV000671211
dbSNP Id:
rs780776419
ExAC:
17:7123383 G / A
gnomAD v2:
17-7123383-G-A
gnomAD v3:
17-7220064-G-A
gnomAD v4:
17-7220064-G-A
ERepo:
CA8337527/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220064G>A , CM000679.2:g.7220064G>A | GRCh38 |
| NC_000017.10:g.7123383G>A , CM000679.1:g.7123383G>A | GRCh37 |
| NC_000017.9:g.7064107G>A | NCBI36 |
| NG_007975.1:g.5231G>A | |
| NG_008391.2:g.4987C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.62+18G>A MANE Select | ENSP00000349297.5:n.62+18G>A | |
| ENST00000322910.9:c.80G>A | ENSP00000325395.5:p.Arg27Lys | |
| ENST00000350303.9:c.62+18G>A | ENSP00000344152.5:n.62+18G>A | |
| ENST00000356839.9:c.62+18G>A | ENSP00000349297.5:n.62+18G>A | |
| ENST00000543245.6:c.132-58G>A | ENSP00000438689.2:n.132-58G>A | |
| ENST00000577191.5:n.139+18G>A | ||
| ENST00000577857.5:n.152+18G>A | ||
| ENST00000578269.5:n.169+18G>A | ||
| ENST00000578421.1:n.139G>A | ||
| ENST00000579286.5:n.169+18G>A | ||
| ENST00000579886.2:c.62+18G>A | ENSP00000463246.1:n.62+18G>A | |
| ENST00000580263.5:n.152+18G>A | ||
| ENST00000581562.5:n.109+18G>A | ||
| ENST00000582056.5:n.152+18G>A | ||
| ENST00000582356.5:n.187+18G>A | ||
| ENST00000583312.5:c.62+18G>A | ENSP00000467920.1:n.62+18G>A | |
| ENST00000584103.5:c.62+18G>A | ENSP00000465353.1:n.62+18G>A | |
| NM_000018.3:c.62+18G>A | NP_000009.1:n.62+18G>A | |
| NM_001033859.2:c.62+18G>A | NP_001029031.1:n.62+18G>A | |
| NM_001270447.1:c.132-58G>A | NP_001257376.1:n.132-58G>A | |
| NM_001270448.1:c.-224G>A | NP_001257377.1:n.-224G>A | |
| XM_006721516.2:c.62+18G>A | XP_006721579.2:n.62+18G>A | |
| XM_011523829.1:c.62+18G>A | XP_011522131.1:n.62+18G>A | |
| XM_011523830.1:c.62+18G>A | XP_011522132.1:n.62+18G>A | |
| XR_934021.1:n.169+18G>A | ||
| XR_934022.1:n.169+18G>A | ||
| XR_934023.1:n.169+18G>A | ||
| XM_006721516.3:c.62+18G>A | XP_006721579.2:n.62+18G>A | |
| XM_011523829.2:c.62+18G>A | XP_011522131.1:n.62+18G>A | |
| XM_011523830.2:c.62+18G>A | XP_011522132.1:n.62+18G>A | |
| XM_024450741.1:c.62+18G>A | XP_024306509.1:n.62+18G>A | |
| XR_934021.2:n.121+18G>A | ||
| XR_934022.2:n.121+18G>A | ||
| XR_934023.2:n.121+18G>A | ||
| NM_000018.4:c.62+18G>A MANE Select | NP_000009.1:n.62+18G>A | |
| NM_001033859.3:c.62+18G>A | NP_001029031.1:n.62+18G>A | |
| NM_001270447.2:c.132-58G>A | NP_001257376.1:n.132-58G>A | |
| NM_001270448.2:c.-224G>A | NP_001257377.1:n.-224G>A |