Linked Data
ClinVar Variation Id:
1130310
ClinVar RCV Id:
RCV001463773
dbSNP Id:
rs1295605212
gnomAD v4:
17-7224542-G-A
MyVariant Identifiers:
chr17:g.7127861G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224542G>A , CM000679.2:g.7224542G>A | GRCh38 |
| NC_000017.10:g.7127861G>A , CM000679.1:g.7127861G>A | GRCh37 |
| NC_000017.9:g.7068585G>A | NCBI36 |
| NG_007975.1:g.9709G>A | |
| NG_008391.2:g.509C>T | |
| NG_033038.1:g.15003C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1668G>A MANE Select | ENSP00000349297.5:p.Lys556= | |
| ENST00000322910.9:c.*1623G>A | ENSP00000325395.5:n.*1623G>A | |
| ENST00000350303.9:c.1602G>A | ENSP00000344152.5:p.Lys534= | |
| ENST00000356839.9:c.1668G>A | ENSP00000349297.5:p.Lys556= | |
| ENST00000542255.6:c.526G>A | ||
| ENST00000543245.6:c.1737G>A | ENSP00000438689.2:p.Lys579= | |
| ENST00000578319.5:n.249G>A | ||
| ENST00000578711.1:n.1038G>A | ||
| ENST00000578809.5:n.240G>A | ||
| ENST00000579391.1:n.272G>A | ||
| ENST00000579425.5:n.784G>A | ||
| ENST00000579546.1:c.403G>A | ||
| ENST00000582450.1:n.176G>A | ||
| ENST00000583074.5:n.289G>A | ||
| ENST00000583848.5:c.54G>A | ENSP00000466487.1:p.Lys18= | |
| ENST00000583850.5:n.439G>A | ||
| ENST00000583858.5:c.599G>A | ||
| ENST00000585203.6:n.859G>A | ||
| NM_000018.3:c.1668G>A | NP_000009.1:p.Lys556= | |
| NM_001033859.2:c.1602G>A | NP_001029031.1:p.Lys534= | |
| NM_001270447.1:c.1737G>A | NP_001257376.1:p.Lys579= | |
| NM_001270448.1:c.1440G>A | NP_001257377.1:p.Lys480= | |
| XM_006721516.2:c.1668G>A | XP_006721579.2:p.Lys556= | |
| XM_011523829.1:c.1566G>A | XP_011522131.1:p.Lys522= | |
| XM_011523830.1:c.1566G>A | XP_011522132.1:p.Lys522= | |
| XR_934021.1:n.1771G>A | ||
| XR_934022.1:n.1677G>A | ||
| XR_934023.1:n.1677G>A | ||
| XM_006721516.3:c.1668G>A | XP_006721579.2:p.Lys556= | |
| XM_011523829.2:c.1566G>A | XP_011522131.1:p.Lys522= | |
| XM_011523830.2:c.1566G>A | XP_011522132.1:p.Lys522= | |
| XM_024450741.1:c.1656G>A | XP_024306509.1:p.Lys552= | |
| XR_934021.2:n.1723G>A | ||
| XR_934022.2:n.1629G>A | ||
| XR_934023.2:n.1629G>A | ||
| NM_000018.4:c.1668G>A MANE Select | NP_000009.1:p.Lys556= | |
| NM_001033859.3:c.1602G>A | NP_001029031.1:p.Lys534= | |
| NM_001270447.2:c.1737G>A | NP_001257376.1:p.Lys579= | |
| NM_001270448.2:c.1440G>A | NP_001257377.1:p.Lys480= |