Linked Data
ClinVar Variation Id:
1959081
ClinVar RCV Id:
RCV002710073
dbSNP Id:
rs375925916
ExAC:
5:126755861 C / T
gnomAD v2:
5-126755861-C-T
gnomAD v3:
5-127420169-C-T
gnomAD v4:
5-127420169-C-T
COSMIC:
COSM1662742
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127420169C>T , CM000667.2:g.127420169C>T | GRCh38 |
| NC_000005.9:g.126755861C>T , CM000667.1:g.126755861C>T | GRCh37 |
| NC_000005.8:g.126783760C>T | NCBI36 |
| NG_032072.1:g.134406C>T | |
| NG_032072.2:g.134406C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503335.7:c.1552C>T MANE Select | ENSP00000423354.2:p.Pro518Ser | |
| ENST00000274473.6:c.1552C>T | ENSP00000274473.6:p.Pro518Ser | |
| ENST00000418761.6:c.1552C>T | ENSP00000416284.2:p.Pro518Ser | |
| ENST00000503335.6:c.1552C>T | ENSP00000423354.2:p.Pro518Ser | |
| ENST00000508365.5:c.1552C>T | ENSP00000423195.1:p.Pro518Ser | |
| NM_001256545.1:c.1552C>T | NP_001243474.1:p.Pro518Ser | |
| NM_001308119.1:c.1552C>T | NP_001295048.1:p.Pro518Ser | |
| NM_001308121.1:c.1552C>T | NP_001295050.1:p.Pro518Ser | |
| NM_032446.2:c.1552C>T | NP_115822.1:p.Pro518Ser | |
| XM_011543692.1:c.1552C>T | XP_011541994.1:p.Pro518Ser | |
| XM_011543693.1:c.1552C>T | XP_011541995.1:p.Pro518Ser | |
| XM_011543694.1:c.1552C>T | XP_011541996.1:p.Pro518Ser | |
| XM_017009987.1:c.1717C>T | XP_016865476.1:p.Pro573Ser | |
| XM_017009988.1:c.412C>T | XP_016865477.1:p.Pro138Ser | |
| NM_001256545.2:c.1552C>T MANE Select | NP_001243474.1:p.Pro518Ser | |
| NM_032446.3:c.1552C>T | NP_115822.1:p.Pro518Ser | |
| NM_001308119.2:c.1552C>T | NP_001295048.1:p.Pro518Ser | |
| NM_001308121.2:c.1552C>T | NP_001295050.1:p.Pro518Ser |