Linked Data
ClinVar Variation Id:
728450
ClinVar RCV Id:
RCV001391780
dbSNP Id:
rs981386078
gnomAD v2:
1-983247-G-A
gnomAD v3:
1-1047867-G-A
gnomAD v4:
1-1047867-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1047867G>A , CM000663.2:g.1047867G>A | GRCh38 |
| NC_000001.10:g.983247G>A , CM000663.1:g.983247G>A | GRCh37 |
| NC_000001.9:g.973110G>A | NCBI36 |
| NG_016346.1:g.32745G>A , LRG_198:g.32745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3723G>A MANE Select | ENSP00000368678.2:p.Leu1241= | |
| ENST00000651234.1:c.3408G>A | ENSP00000499046.1:p.Leu1136= | |
| ENST00000652369.1:c.3408G>A | ENSP00000498543.1:p.Leu1136= | |
| ENST00000379370.6:c.3723G>A | ENSP00000368678.2:p.Leu1241= | |
| ENST00000620552.4:c.3309G>A | ENSP00000484607.1:p.Leu1103= | |
| NM_001305275.1:c.3723G>A | NP_001292204.1:p.Leu1241= | |
| NM_198576.3:c.3723G>A | NP_940978.2:p.Leu1241= | |
| XM_005244749.2:c.3723G>A | XP_005244806.1:p.Leu1241= | |
| XM_006710635.2:c.3723G>A | XP_006710698.1:p.Leu1241= | |
| XM_011541429.1:c.3723G>A | XP_011539731.1:p.Leu1241= | |
| XM_011541430.1:c.2850G>A | XP_011539732.1:p.Leu950= | |
| XM_011541431.1:c.1989G>A | XP_011539733.1:p.Leu663= | |
| XR_946650.1:n.3790G>A | ||
| NM_001364727.1:c.3408G>A | NP_001351656.1:p.Leu1136= | |
| XM_005244749.3:c.3723G>A | XP_005244806.1:p.Leu1241= | |
| XM_011541429.2:c.3723G>A | XP_011539731.1:p.Leu1241= | |
| XR_946650.2:n.3794G>A | ||
| NM_001305275.2:c.3723G>A | NP_001292204.1:p.Leu1241= | |
| NM_198576.4:c.3723G>A MANE Select | NP_940978.2:p.Leu1241= | |
| NM_001364727.2:c.3408G>A | NP_001351656.1:p.Leu1136= |