Linked Data
ClinVar Variation Id:
1397355
ClinVar RCV Id:
RCV001920195
dbSNP Id:
rs752752402
ExAC:
15:100589111 G / A
gnomAD v2:
15-100589111-G-A
gnomAD v4:
15-100048906-G-A
COSMIC:
COSM4978127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100048906G>A , CM000677.2:g.100048906G>A | GRCh38 |
| NC_000015.9:g.100589111G>A , CM000677.1:g.100589111G>A | GRCh37 |
| NC_000015.8:g.98406634G>A | NCBI36 |
| NG_016287.1:g.298073C>T | |
| NG_016287.2:g.298073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.2542C>T MANE Select | ENSP00000268070.4:p.Arg848Cys | |
| ENST00000568565.2:c.2623C>T | ENSP00000456161.2:p.Arg875Cys | |
| ENST00000268070.8:c.2542C>T | ENSP00000268070.4:p.Arg848Cys | |
| NM_139057.2:c.2542C>T | NP_620688.2:p.Arg848Cys | |
| XM_005254872.2:c.2623C>T | XP_005254929.1:p.Arg875Cys | |
| XM_011521312.1:c.2692C>T | XP_011519614.1:p.Arg898Cys | |
| NM_139057.3:c.2542C>T | NP_620688.2:p.Arg848Cys | |
| XM_005254872.3:c.2623C>T | XP_005254929.1:p.Arg875Cys | |
| XM_011521312.2:c.2692C>T | XP_011519614.1:p.Arg898Cys | |
| XM_017021973.2:c.2824C>T | XP_016877462.1:p.Arg942Cys | |
| XM_017021974.1:c.2824C>T | XP_016877463.1:p.Arg942Cys | |
| XM_017021975.1:c.2755C>T | XP_016877464.1:p.Arg919Cys | |
| XM_017021976.1:c.2095C>T | XP_016877465.1:p.Arg699Cys | |
| XM_017021978.1:c.1726C>T | XP_016877467.1:p.Arg576Cys | |
| XM_017021979.1:c.1504C>T | XP_016877468.1:p.Arg502Cys | |
| XM_017021980.1:c.1504C>T | XP_016877469.1:p.Arg502Cys | |
| XM_017021982.1:c.1213C>T | XP_016877471.1:p.Arg405Cys | |
| XM_017021983.1:c.997C>T | XP_016877472.1:p.Arg333Cys | |
| NM_139057.4:c.2542C>T MANE Select | NP_620688.2:p.Arg848Cys |