Linked Data
ClinVar Variation Id:
1546498
ClinVar RCV Id:
RCV002170834
dbSNP Id:
rs2125194017
gnomAD v4:
1-197268478-A-T
MyVariant Identifiers:
chr1:g.197237608A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197268478A>T , CM000663.2:g.197268478A>T | GRCh38 |
| NC_000001.10:g.197237608A>T , CM000663.1:g.197237608A>T | GRCh37 |
| NC_000001.9:g.195504231A>T | NCBI36 |
| NG_008483.1:g.5201A>T | |
| NG_008483.2:g.72017A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.66A>T MANE Select | ENSP00000356370.3:p.Ile22= | |
| ENST00000638467.1:c.66A>T | ENSP00000491102.1:p.Ile22= | |
| ENST00000367399.6:c.66A>T | ENSP00000356369.2:p.Ile22= | |
| ENST00000367400.7:c.66A>T | ENSP00000356370.3:p.Ile22= | |
| ENST00000475659.1:n.203A>T | ||
| ENST00000484075.5:c.66A>T | ENSP00000433932.1:p.Ile22= | |
| ENST00000535699.5:c.-142A>T | ENSP00000438786.1:n.-142A>T | |
| ENST00000538660.5:c.66A>T | ENSP00000438091.1:p.Ile22= | |
| NM_001193640.1:c.66A>T | NP_001180569.1:p.Ile22= | |
| NM_001257965.1:c.-212-33962A>T | NP_001244894.1:n.-212-33962A>T | |
| NM_001257966.1:c.66A>T | NP_001244895.1:p.Ile22= | |
| NM_201253.2:c.66A>T | NP_957705.1:p.Ile22= | |
| NR_047563.1:n.275A>T | ||
| NR_047564.1:n.275A>T | ||
| XM_011509365.1:c.66A>T | XP_011507667.1:p.Ile22= | |
| XM_011509366.1:c.66A>T | XP_011507668.1:p.Ile22= | |
| XM_011509367.1:c.66A>T | XP_011507669.1:p.Ile22= | |
| XM_011509368.1:c.66A>T | XP_011507670.1:p.Ile22= | |
| XM_011509365.2:c.66A>T | XP_011507667.1:p.Ile22= | |
| XM_017000851.1:c.-638A>T | XP_016856340.1:n.-638A>T | |
| XM_017000852.1:c.66A>T | XP_016856341.1:p.Ile22= | |
| NM_201253.3:c.66A>T MANE Select | NP_957705.1:p.Ile22= | |
| NM_001193640.2:c.66A>T | NP_001180569.1:p.Ile22= | |
| NM_001257965.2:c.-212-33962A>T | NP_001244894.1:n.-212-33962A>T | |
| NR_047563.2:n.227A>T | ||
| NR_047564.2:n.227A>T | ||
| NM_001257966.2:c.66A>T | NP_001244895.1:p.Ile22= |