Linked Data
dbSNP Id:
rs778068384
ExAC:
1:101005561 G / T
gnomAD v2:
1-101005561-G-T
gnomAD v3:
1-100540005-G-T
gnomAD v4:
1-100540005-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100540005G>T , CM000663.2:g.100540005G>T | GRCh38 |
| NC_000001.10:g.101005561G>T , CM000663.1:g.101005561G>T | GRCh37 |
| NC_000001.9:g.100778149G>T | NCBI36 |
| NG_053134.1:g.6834G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.1039G>T MANE Select | ENSP00000314223.4:p.Val347Leu | |
| ENST00000315033.4:c.1039G>T | ENSP00000314223.4:p.Val347Leu | |
| NM_022049.2:c.1039G>T | NP_071332.2:p.Val347Leu | |
| NM_022049.3:c.1039G>T MANE Select | NP_071332.2:p.Val347Leu |