Linked Data
dbSNP Id:
rs1248179816
gnomAD v3:
1-17356248-G-T
gnomAD v4:
1-17356248-G-T
MyVariant Identifiers:
chr1:g.17356248G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17356248G>T , CM000663.2:g.17356248G>T | GRCh38 |
| NC_000001.10:g.17682743G>T , CM000663.1:g.17682743G>T | GRCh37 |
| NC_000001.9:g.17555330G>T | NCBI36 |
| NG_023261.2:g.53059G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375448.4:c.1456-109G>T MANE Select | ENSP00000364597.4:n.1456-109G>T | |
| ENST00000467001.1:n.357-109G>T | ||
| ENST00000487048.5:n.423-109G>T | ||
| NM_012387.2:c.1456-109G>T | NP_036519.2:n.1456-109G>T | |
| XM_011541150.1:c.1270-109G>T | XP_011539452.1:n.1270-109G>T | |
| XM_011541151.1:c.1156-109G>T | XP_011539453.1:n.1156-109G>T | |
| XM_011541152.1:c.919-109G>T | XP_011539454.1:n.919-109G>T | |
| XM_011541157.1:c.565-109G>T | XP_011539459.1:n.565-109G>T | |
| NM_012387.3:c.1456-109G>T MANE Select | NP_036519.2:n.1456-109G>T |