Linked Data
ClinVar Variation Id:
1949884
ClinVar RCV Id:
RCV002671294
dbSNP Id:
rs1667267115
MyVariant Identifiers:
chr1:g.197446955C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197477825C>A , CM000663.2:g.197477825C>A | GRCh38 |
| NC_000001.10:g.197446955C>A , CM000663.1:g.197446955C>A | GRCh37 |
| NC_000001.9:g.195713578C>A | NCBI36 |
| NG_008483.1:g.214548C>A | |
| NG_008483.2:g.281364C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.4167C>A MANE Select | ENSP00000356370.3:p.Ser1389= | |
| ENST00000367399.6:c.3831C>A | ENSP00000356369.2:p.Ser1277= | |
| ENST00000367400.7:c.4167C>A | ENSP00000356370.3:p.Ser1389= | |
| ENST00000448952.1:c.401C>A | ENSP00000395407.1:n.401C>A | |
| ENST00000484075.5:c.*278C>A | ENSP00000433932.1:n.*278C>A | |
| ENST00000535699.5:c.4095C>A | ENSP00000438786.1:p.Ser1365= | |
| ENST00000538660.5:c.2559C>A | ENSP00000438091.1:p.Ser853= | |
| NM_001193640.1:c.3831C>A | NP_001180569.1:p.Ser1277= | |
| NM_001257965.1:c.4095C>A | NP_001244894.1:p.Ser1365= | |
| NM_001257966.1:c.2559C>A | NP_001244895.1:p.Ser853= | |
| NM_201253.2:c.4167C>A | NP_957705.1:p.Ser1389= | |
| NR_047563.1:n.4168C>A | ||
| NR_047564.1:n.4618C>A | ||
| XM_011509366.1:c.*272C>A | XP_011507668.1:n.*272C>A | |
| XM_011509367.1:c.*146C>A | XP_011507669.1:n.*146C>A | |
| XM_011509368.1:c.3585C>A | XP_011507670.1:p.Ser1195= | |
| XM_011509369.1:c.2610C>A | XP_011507671.1:p.Ser870= | |
| XM_011509369.2:c.2610C>A | XP_011507671.1:p.Ser870= | |
| XM_017000851.1:c.3324C>A | XP_016856340.1:p.Ser1108= | |
| XM_017000852.1:c.4302C>A | XP_016856341.1:p.Ser1434= | |
| NM_201253.3:c.4167C>A MANE Select | NP_957705.1:p.Ser1389= | |
| NM_001193640.2:c.3831C>A | NP_001180569.1:p.Ser1277= | |
| NM_001257965.2:c.4095C>A | NP_001244894.1:p.Ser1365= | |
| NR_047563.2:n.4120C>A | ||
| NR_047564.2:n.4570C>A | ||
| NM_001257966.2:c.2559C>A | NP_001244895.1:p.Ser853= |