Linked Data
dbSNP Id:
rs771492393
ExAC:
7:107336389 G / T
gnomAD v2:
7-107336389-G-T
gnomAD v4:
7-107695944-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107695944G>T , CM000669.2:g.107695944G>T | GRCh38 |
| NC_000007.13:g.107336389G>T , CM000669.1:g.107336389G>T | GRCh37 |
| NC_000007.12:g.107123625G>T | NCBI36 |
| NG_008489.1:g.40310G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1449G>T MANE Select | ENSP00000494017.1:p.Val483= | |
| ENST00000644846.1:c.160G>T | ||
| ENST00000265715.7:c.1449G>T | ENSP00000265715.3:p.Val483= | |
| ENST00000460748.1:n.552G>T | ||
| ENST00000477350.5:n.296G>T | ||
| ENST00000480841.5:n.298G>T | ||
| ENST00000497446.5:n.464G>T | ||
| NM_000441.1:c.1449G>T | NP_000432.1:p.Val483= | |
| XM_005250425.1:c.1449G>T | XP_005250482.1:p.Val483= | |
| XM_005250425.2:c.1449G>T | XP_005250482.1:p.Val483= | |
| XM_017012318.1:c.1371G>T | XP_016867807.1:p.Val457= | |
| NM_000441.2:c.1449G>T MANE Select | NP_000432.1:p.Val483= |