Linked Data
dbSNP Id:
rs1667216178
gnomAD v4:
1-151612373-C-A
MyVariant Identifiers:
chr1:g.151584849C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151612373C>A , CM000663.2:g.151612373C>A | GRCh38 |
| NC_000001.10:g.151584849C>A , CM000663.1:g.151584849C>A | GRCh37 |
| NC_000001.9:g.149851473C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368841.7:c.172C>A | ENSP00000357834.2:p.Arg58= | |
| ENST00000368843.8:c.172C>A | ENSP00000357836.3:p.Arg58= | |
| ENST00000458013.7:c.172C>A MANE Select | ENSP00000400333.2:p.Arg58= | |
| ENST00000642349.1:c.37C>A | ENSP00000494331.1:p.Arg13= | |
| ENST00000642376.1:c.172C>A | ENSP00000496645.1:p.Arg58= | |
| ENST00000642479.1:c.172C>A | ENSP00000496775.1:p.Arg58= | |
| ENST00000368841.6:c.172C>A | ENSP00000357834.2:p.Arg58= | |
| ENST00000368843.7:c.172C>A | ENSP00000357836.3:p.Arg58= | |
| ENST00000458013.6:c.172C>A | ENSP00000400333.2:p.Arg58= | |
| NM_030918.5:c.172C>A | NP_112180.4:p.Arg58= | |
| XM_005245509.1:c.172C>A | XP_005245566.1:p.Arg58= | |
| XM_005245510.2:c.-67C>A | XP_005245567.1:n.-67C>A | |
| XM_005245511.3:c.-256C>A | XP_005245568.1:n.-256C>A | |
| XM_011510024.1:c.172C>A | XP_011508326.1:p.Arg58= | |
| XM_011510025.1:c.172C>A | XP_011508327.1:p.Arg58= | |
| XM_011510026.1:c.172C>A | XP_011508328.1:p.Arg58= | |
| NM_001330723.1:c.172C>A | NP_001317652.1:p.Arg58= | |
| XM_005245511.4:c.-256C>A | XP_005245568.1:n.-256C>A | |
| XM_011510024.2:c.172C>A | XP_011508326.1:p.Arg58= | |
| XM_011510025.2:c.172C>A | XP_011508327.1:p.Arg58= | |
| XM_011510026.2:c.172C>A | XP_011508328.1:p.Arg58= | |
| XM_017002417.1:c.172C>A | XP_016857906.1:p.Arg58= | |
| XM_024450038.1:c.-155C>A | XP_024305806.1:n.-155C>A | |
| XM_024450039.1:c.-155C>A | XP_024305807.1:n.-155C>A | |
| NM_001330723.2:c.172C>A MANE Select | NP_001317652.1:p.Arg58= | |
| NM_030918.6:c.172C>A | NP_112180.4:p.Arg58= |