Linked Data
dbSNP Id:
rs1016990
gnomAD v3:
17-37728924-G-T
gnomAD v4:
17-37728924-G-T
MyVariant Identifiers:
chr17:g.37728924G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37728924G>T , CM000679.2:g.37728924G>T | GRCh38 |
| NC_000017.10:g.36088915G>T , CM000679.1:g.36088915G>T | GRCh37 |
| NC_000017.9:g.33163028G>T | NCBI36 |
| NG_013019.2:g.21183C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617811.5:c.1045+2671C>A MANE Select | ENSP00000480291.1:n.1045+2671C>A | |
| ENST00000613727.4:c.967+2671C>A | ENSP00000477524.1:n.967+2671C>A | |
| ENST00000614313.4:c.1045+2671C>A | ENSP00000482529.1:n.1045+2671C>A | |
| ENST00000617272.4:c.1045+2671C>A | ENSP00000478682.1:n.1045+2671C>A | |
| ENST00000617811.4:c.1045+2671C>A | ENSP00000480291.1:n.1045+2671C>A | |
| ENST00000618894.1:n.3168C>A | ||
| ENST00000621123.4:c.967+2671C>A | ENSP00000482711.1:n.967+2671C>A | |
| NM_000458.3:c.1045+2671C>A | NP_000449.1:n.1045+2671C>A | |
| NM_001165923.3:c.967+2671C>A | NP_001159395.1:n.967+2671C>A | |
| NM_001304286.1:c.967+2671C>A | NP_001291215.1:n.967+2671C>A | |
| XM_011525160.1:c.1045+2671C>A | XP_011523462.1:n.1045+2671C>A | |
| XM_011525161.1:c.1045+2671C>A | XP_011523463.1:n.1045+2671C>A | |
| XM_011525162.1:c.1045+2671C>A | XP_011523464.1:n.1045+2671C>A | |
| XM_011525163.1:c.1045+2671C>A | XP_011523465.1:n.1045+2671C>A | |
| XM_011525164.1:c.967+2671C>A | XP_011523466.1:n.967+2671C>A | |
| XM_011525162.2:c.1045+2671C>A | XP_011523464.1:n.1045+2671C>A | |
| XM_011525163.2:c.1045+2671C>A | XP_011523465.1:n.1045+2671C>A | |
| NM_000458.4:c.1045+2671C>A MANE Select | NP_000449.1:n.1045+2671C>A | |
| NM_001165923.4:c.967+2671C>A | NP_001159395.1:n.967+2671C>A | |
| NM_001304286.2:c.967+2671C>A | NP_001291215.1:n.967+2671C>A |