Linked Data
ClinVar Variation Id:
2028850
ClinVar RCV Id:
RCV002894007
dbSNP Id:
rs1211813670
gnomAD v3:
17-7224345-G-A
gnomAD v4:
17-7224345-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224345G>A , CM000679.2:g.7224345G>A | GRCh38 |
| NC_000017.10:g.7127664G>A , CM000679.1:g.7127664G>A | GRCh37 |
| NC_000017.9:g.7068388G>A | NCBI36 |
| NG_007975.1:g.9512G>A | |
| NG_008391.2:g.706C>T | |
| NG_033038.1:g.15200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1557G>A MANE Select | ENSP00000349297.5:p.Leu519= | |
| ENST00000322910.9:c.*1512G>A | ENSP00000325395.5:n.*1512G>A | |
| ENST00000350303.9:c.1491G>A | ENSP00000344152.5:p.Leu497= | |
| ENST00000356839.9:c.1557G>A | ENSP00000349297.5:p.Leu519= | |
| ENST00000542255.6:c.415G>A | ||
| ENST00000543245.6:c.1626G>A | ENSP00000438689.2:p.Leu542= | |
| ENST00000578319.5:n.52G>A | ||
| ENST00000578711.1:n.841G>A | ||
| ENST00000578809.5:n.129G>A | ||
| ENST00000579391.1:n.165G>A | ||
| ENST00000579425.5:n.673G>A | ||
| ENST00000579546.1:c.296G>A | ||
| ENST00000579894.5:n.344G>A | ||
| ENST00000582450.1:n.65G>A | ||
| ENST00000583074.5:n.178G>A | ||
| ENST00000583850.5:n.332G>A | ||
| ENST00000583858.5:c.488G>A | ||
| ENST00000585203.6:n.748G>A | ||
| NM_000018.3:c.1557G>A | NP_000009.1:p.Leu519= | |
| NM_001033859.2:c.1491G>A | NP_001029031.1:p.Leu497= | |
| NM_001270447.1:c.1626G>A | NP_001257376.1:p.Leu542= | |
| NM_001270448.1:c.1329G>A | NP_001257377.1:p.Leu443= | |
| XM_006721516.2:c.1557G>A | XP_006721579.2:p.Leu519= | |
| XM_011523829.1:c.1459G>A | XP_011522131.1:p.Glu487Lys | |
| XM_011523830.1:c.1459G>A | XP_011522132.1:p.Glu487Lys | |
| XR_934021.1:n.1664G>A | ||
| XR_934022.1:n.1566G>A | ||
| XR_934023.1:n.1566G>A | ||
| XM_006721516.3:c.1557G>A | XP_006721579.2:p.Leu519= | |
| XM_011523829.2:c.1459G>A | XP_011522131.1:p.Glu487Lys | |
| XM_011523830.2:c.1459G>A | XP_011522132.1:p.Glu487Lys | |
| XM_024450741.1:c.1459G>A | XP_024306509.1:p.Glu487Lys | |
| XR_934021.2:n.1616G>A | ||
| XR_934022.2:n.1518G>A | ||
| XR_934023.2:n.1518G>A | ||
| NM_000018.4:c.1557G>A MANE Select | NP_000009.1:p.Leu519= | |
| NM_001033859.3:c.1491G>A | NP_001029031.1:p.Leu497= | |
| NM_001270447.2:c.1626G>A | NP_001257376.1:p.Leu542= | |
| NM_001270448.2:c.1329G>A | NP_001257377.1:p.Leu443= |