Linked Data
ClinVar Variation Id:
1660605
ClinVar RCV Id:
RCV002183932
dbSNP Id:
rs2142989842
MyVariant Identifiers:
chr17:g.7127986G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224667G>A , CM000679.2:g.7224667G>A | GRCh38 |
| NC_000017.10:g.7127986G>A , CM000679.1:g.7127986G>A | GRCh37 |
| NC_000017.9:g.7068710G>A | NCBI36 |
| NG_007975.1:g.9834G>A | |
| NG_008391.2:g.384C>T | |
| NG_033038.1:g.14878C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1704G>A MANE Select | ENSP00000349297.5:p.Leu568= | |
| ENST00000322910.9:c.*1659G>A | ENSP00000325395.5:n.*1659G>A | |
| ENST00000350303.9:c.1638G>A | ENSP00000344152.5:p.Leu546= | |
| ENST00000356839.9:c.1704G>A | ENSP00000349297.5:p.Leu568= | |
| ENST00000542255.6:c.537-48G>A | ||
| ENST00000543245.6:c.1773G>A | ENSP00000438689.2:p.Leu591= | |
| ENST00000578033.1:n.35G>A | ||
| ENST00000578319.5:n.285G>A | ||
| ENST00000578711.1:n.1163G>A | ||
| ENST00000578809.5:n.276G>A | ||
| ENST00000579425.5:n.820G>A | ||
| ENST00000579546.1:c.439G>A | ||
| ENST00000583074.5:n.300-48G>A | ||
| ENST00000583848.5:c.70G>A | ENSP00000466487.1:p.Gly24Ser | |
| ENST00000583850.5:n.475G>A | ||
| ENST00000583858.5:c.635G>A | ||
| ENST00000585203.6:n.895G>A | ||
| NM_000018.3:c.1704G>A | NP_000009.1:p.Leu568= | |
| NM_001033859.2:c.1638G>A | NP_001029031.1:p.Leu546= | |
| NM_001270447.1:c.1773G>A | NP_001257376.1:p.Leu591= | |
| NM_001270448.1:c.1476G>A | NP_001257377.1:p.Leu492= | |
| XM_006721516.2:c.1679-48G>A | XP_006721579.2:n.1679-48G>A | |
| XM_011523829.1:c.1577-48G>A | XP_011522131.1:n.1577-48G>A | |
| XM_011523830.1:c.1602G>A | XP_011522132.1:p.Leu534= | |
| XR_934021.1:n.1807G>A | ||
| XR_934022.1:n.1713G>A | ||
| XR_934023.1:n.1688-48G>A | ||
| XM_006721516.3:c.1679-48G>A | XP_006721579.2:n.1679-48G>A | |
| XM_011523829.2:c.1577-48G>A | XP_011522131.1:n.1577-48G>A | |
| XM_011523830.2:c.1602G>A | XP_011522132.1:p.Leu534= | |
| XM_024450741.1:c.1692G>A | XP_024306509.1:p.Leu564= | |
| XR_934021.2:n.1759G>A | ||
| XR_934022.2:n.1665G>A | ||
| XR_934023.2:n.1640-48G>A | ||
| NM_000018.4:c.1704G>A MANE Select | NP_000009.1:p.Leu568= | |
| NM_001033859.3:c.1638G>A | NP_001029031.1:p.Leu546= | |
| NM_001270447.2:c.1773G>A | NP_001257376.1:p.Leu591= | |
| NM_001270448.2:c.1476G>A | NP_001257377.1:p.Leu492= |