Linked Data
dbSNP Id:
rs1652473518
gnomAD v4:
1-146018404-A-T
MyVariant Identifiers:
chr1:g.145416609T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146018404A>T , CM000663.2:g.146018404A>T | GRCh38 |
| NC_000001.10:g.145416609T>A , CM000663.1:g.145416609T>A | GRCh37 |
| NC_000001.9:g.144127966T>A | NCBI36 |
| NG_011568.1:g.8419T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336751.11:c.954T>A MANE Select | ENSP00000337014.5:p.Val318= | |
| ENST00000636675.1:c.276T>A | ENSP00000490072.1:p.Val92= | |
| ENST00000336751.10:c.954T>A | ENSP00000337014.5:p.Val318= | |
| ENST00000357836.5:c.615T>A | ENSP00000350495.5:p.Val205= | |
| ENST00000475797.1:c.276T>A | ENSP00000425716.1:p.Val92= | |
| ENST00000497365.5:c.276T>A | ENSP00000421820.1:p.Val92= | |
| NM_001316767.1:c.276T>A | NP_001303696.1:p.Val92= | |
| NM_145277.4:c.615T>A | NP_660320.3:p.Val205= | |
| NM_202004.3:c.276T>A | NP_973733.1:p.Val92= | |
| NM_213652.3:c.276T>A | NP_998817.1:p.Val92= | |
| NM_213653.3:c.954T>A | NP_998818.1:p.Val318= | |
| XM_005272932.1:c.954T>A | XP_005272989.1:p.Val318= | |
| NM_001316767.2:c.276T>A | NP_001303696.1:p.Val92= | |
| NM_145277.5:c.615T>A | NP_660320.3:p.Val205= | |
| NM_202004.4:c.276T>A | NP_973733.1:p.Val92= | |
| NM_213652.4:c.276T>A | NP_998817.1:p.Val92= | |
| NM_001379352.1:c.954T>A | NP_001366281.1:p.Val318= | |
| NM_213653.4:c.954T>A MANE Select | NP_998818.1:p.Val318= |