Linked Data
ClinVar Variation Id:
1402587
ClinVar RCV Id:
RCV001906493
dbSNP Id:
rs765114645
gnomAD v2:
15-100589110-C-A
gnomAD v4:
15-100048905-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100048905C>A , CM000677.2:g.100048905C>A | GRCh38 |
| NC_000015.9:g.100589110C>A , CM000677.1:g.100589110C>A | GRCh37 |
| NC_000015.8:g.98406633C>A | NCBI36 |
| NG_016287.1:g.298074G>T | |
| NG_016287.2:g.298074G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.2543G>T MANE Select | ENSP00000268070.4:p.Arg848Leu | |
| ENST00000568565.2:c.2624G>T | ENSP00000456161.2:p.Arg875Leu | |
| ENST00000268070.8:c.2543G>T | ENSP00000268070.4:p.Arg848Leu | |
| NM_139057.2:c.2543G>T | NP_620688.2:p.Arg848Leu | |
| XM_005254872.2:c.2624G>T | XP_005254929.1:p.Arg875Leu | |
| XM_011521312.1:c.2693G>T | XP_011519614.1:p.Arg898Leu | |
| NM_139057.3:c.2543G>T | NP_620688.2:p.Arg848Leu | |
| XM_005254872.3:c.2624G>T | XP_005254929.1:p.Arg875Leu | |
| XM_011521312.2:c.2693G>T | XP_011519614.1:p.Arg898Leu | |
| XM_017021973.2:c.2825G>T | XP_016877462.1:p.Arg942Leu | |
| XM_017021974.1:c.2825G>T | XP_016877463.1:p.Arg942Leu | |
| XM_017021975.1:c.2756G>T | XP_016877464.1:p.Arg919Leu | |
| XM_017021976.1:c.2096G>T | XP_016877465.1:p.Arg699Leu | |
| XM_017021978.1:c.1727G>T | XP_016877467.1:p.Arg576Leu | |
| XM_017021979.1:c.1505G>T | XP_016877468.1:p.Arg502Leu | |
| XM_017021980.1:c.1505G>T | XP_016877469.1:p.Arg502Leu | |
| XM_017021982.1:c.1214G>T | XP_016877471.1:p.Arg405Leu | |
| XM_017021983.1:c.998G>T | XP_016877472.1:p.Arg333Leu | |
| NM_139057.4:c.2543G>T MANE Select | NP_620688.2:p.Arg848Leu |