Linked Data
ClinVar Variation Id:
1150462
ClinVar RCV Id:
RCV001491095
dbSNP Id:
rs2125485154
MyVariant Identifiers:
chr1:g.197397029C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427899C>T , CM000663.2:g.197427899C>T | GRCh38 |
| NC_000001.10:g.197397029C>T , CM000663.1:g.197397029C>T | GRCh37 |
| NC_000001.9:g.195663652C>T | NCBI36 |
| NG_008483.1:g.164622C>T | |
| NG_008483.2:g.231438C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2574C>T MANE Select | ENSP00000356370.3:p.Asn858= | |
| ENST00000638467.1:c.2574C>T | ENSP00000491102.1:p.Asn858= | |
| ENST00000681519.1:c.1455C>T | ENSP00000505267.1:p.Asn485= | |
| ENST00000367397.1:c.717C>T | ENSP00000356367.1:p.Asn239= | |
| ENST00000367399.6:c.2238C>T | ENSP00000356369.2:p.Asn746= | |
| ENST00000367400.7:c.2574C>T | ENSP00000356370.3:p.Asn858= | |
| ENST00000484075.5:c.2574C>T | ENSP00000433932.1:p.Asn858= | |
| ENST00000535699.5:c.2367C>T | ENSP00000438786.1:p.Asn789= | |
| ENST00000538660.5:c.2128+5943C>T | ENSP00000438091.1:n.2128+5943C>T | |
| NM_001193640.1:c.2238C>T | NP_001180569.1:p.Asn746= | |
| NM_001257965.1:c.2367C>T | NP_001244894.1:p.Asn789= | |
| NM_001257966.1:c.2128+5943C>T | NP_001244895.1:n.2128+5943C>T | |
| NM_201253.2:c.2574C>T | NP_957705.1:p.Asn858= | |
| NR_047563.1:n.2575C>T | ||
| NR_047564.1:n.2783C>T | ||
| XM_011509365.1:c.2574C>T | XP_011507667.1:p.Asn858= | |
| XM_011509366.1:c.2574C>T | XP_011507668.1:p.Asn858= | |
| XM_011509367.1:c.2574C>T | XP_011507669.1:p.Asn858= | |
| XM_011509368.1:c.1992C>T | XP_011507670.1:p.Asn664= | |
| XM_011509369.1:c.1017C>T | XP_011507671.1:p.Asn339= | |
| XM_011509365.2:c.2574C>T | XP_011507667.1:p.Asn858= | |
| XM_011509369.2:c.1017C>T | XP_011507671.1:p.Asn339= | |
| XM_017000851.1:c.1731C>T | XP_016856340.1:p.Asn577= | |
| XM_017000852.1:c.2574C>T | XP_016856341.1:p.Asn858= | |
| NM_201253.3:c.2574C>T MANE Select | NP_957705.1:p.Asn858= | |
| NM_001193640.2:c.2238C>T | NP_001180569.1:p.Asn746= | |
| NM_001257965.2:c.2367C>T | NP_001244894.1:p.Asn789= | |
| NR_047563.2:n.2527C>T | ||
| NR_047564.2:n.2735C>T | ||
| NM_001257966.2:c.2128+5943C>T | NP_001244895.1:n.2128+5943C>T |