Linked Data
ClinVar Variation Id:
1095026
ClinVar RCV Id:
RCV001415771
dbSNP Id:
rs57360598
ExAC:
17:1657703 C / T
gnomAD v2:
17-1657703-C-T
gnomAD v3:
17-1754409-C-T
gnomAD v4:
17-1754409-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1754409C>T , CM000679.2:g.1754409C>T | GRCh38 |
| NC_000017.10:g.1657703C>T , CM000679.1:g.1657703C>T | GRCh37 |
| NC_000017.9:g.1604453C>T | NCBI36 |
| NG_013215.1:g.16574C>T , LRG_885:g.16574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382061.5:c.1351C>T | ENSP00000371493.4:p.Pro451Ser | |
| ENST00000453066.6:c.1351C>T MANE Select | ENSP00000402286.2:p.Pro451Ser | |
| ENST00000324015.7:c.1351C>T | ENSP00000321853.3:p.Pro451Ser | |
| ENST00000382061.4:c.1351C>T | ENSP00000371493.4:p.Pro451Ser | |
| ENST00000450523.6:c.1159C>T | ENSP00000403877.2:p.Pro387Ser | |
| NM_000934.3:c.1351C>T , LRG_885t1:c.1351C>T | NP_000925.2:p.Pro451Ser | |
| NM_001165920.1:c.1351C>T | NP_001159392.1:p.Pro451Ser | |
| NM_001165921.1:c.1159C>T | NP_001159393.1:p.Pro387Ser | |
| XM_005256699.3:c.1456C>T | XP_005256756.1:p.Pro486Ser | |
| XM_005256700.3:c.1363C>T | XP_005256757.1:p.Pro455Ser | |
| XM_005256701.3:c.1399C>T | XP_005256758.2:p.Pro467Ser | |
| XM_005256703.3:c.1270C>T | XP_005256760.1:p.Pro424Ser | |
| XM_005256701.4:c.1399C>T | XP_005256758.2:p.Pro467Ser | |
| XM_017024765.1:c.1363C>T | XP_016880254.1:p.Pro455Ser | |
| XM_024450805.1:c.1363C>T | XP_024306573.1:p.Pro455Ser | |
| NM_000934.4:c.1351C>T MANE Select | NP_000925.2:p.Pro451Ser | |
| NM_001165921.2:c.1159C>T | NP_001159393.1:p.Pro387Ser |