Linked Data
ClinVar Variation Id:
374258
ClinVar RCV Id:
RCV000415462
dbSNP Id:
rs1057518650
COSMIC:
COSM4111273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80745592G>A , CM000685.2:g.80745592G>A | GRCh38 |
| NC_000023.10:g.80001091G>A , CM000685.1:g.80001091G>A | GRCh37 |
| NC_000023.9:g.79887747G>A | NCBI36 |
| NG_021349.1:g.69143C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373275.5:c.568C>T MANE Select | ENSP00000362372.4:p.Arg190Ter | |
| ENST00000373275.4:c.568C>T | ENSP00000362372.4:p.Arg190Ter | |
| ENST00000478415.1:n.780C>T | ||
| NM_153252.4:c.568C>T | NP_694984.4:p.Arg190Ter | |
| XM_005262113.2:c.568C>T | XP_005262170.1:p.Arg190Ter | |
| XM_011530903.1:c.55C>T | XP_011529205.1:p.Arg19Ter | |
| XM_011530904.1:c.-769C>T | XP_011529206.1:n.-769C>T | |
| XR_430519.2:n.831C>T | ||
| XM_005262113.3:c.568C>T | XP_005262170.1:p.Arg190Ter | |
| XM_017029384.1:c.-769C>T | XP_016884873.1:n.-769C>T | |
| XM_017029385.2:c.568C>T | XP_016884874.1:p.Arg190Ter | |
| XR_430519.3:n.833C>T | ||
| NM_153252.5:c.568C>T MANE Select | NP_694984.5:p.Arg190Ter |