Linked Data
dbSNP Id:
rs765985155
ExAC:
7:107350504 G / A
gnomAD v2:
7-107350504-G-A
gnomAD v3:
7-107710059-G-A
gnomAD v4:
7-107710059-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107710059G>A , CM000669.2:g.107710059G>A | GRCh38 |
| NC_000007.13:g.107350504G>A , CM000669.1:g.107350504G>A | GRCh37 |
| NC_000007.12:g.107137740G>A | NCBI36 |
| NG_008489.1:g.54425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2095G>A MANE Select | ENSP00000494017.1:p.Val699Met | |
| ENST00000644846.1:c.751G>A | ||
| ENST00000265715.7:c.2095G>A | ENSP00000265715.3:p.Val699Met | |
| ENST00000492030.2:n.377-96G>A | ||
| NM_000441.1:c.2095G>A | NP_000432.1:p.Val699Met | |
| XM_005250425.1:c.2095G>A | XP_005250482.1:p.Val699Met | |
| XM_005250425.2:c.2095G>A | XP_005250482.1:p.Val699Met | |
| XM_017012318.1:c.2017G>A | XP_016867807.1:p.Val673Met | |
| NM_000441.2:c.2095G>A MANE Select | NP_000432.1:p.Val699Met |