Linked Data
dbSNP Id:
rs752869249
ExAC:
7:5643018 G / A
gnomAD v2:
7-5643018-G-A
gnomAD v3:
7-5603387-G-A
gnomAD v4:
7-5603387-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5603387G>A , CM000669.2:g.5603387G>A | GRCh38 |
| NC_000007.13:g.5643018G>A , CM000669.1:g.5643018G>A | GRCh37 |
| NC_000007.12:g.5609544G>A | NCBI36 |
| NG_030004.1:g.15583G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382361.8:c.963G>A MANE Select | ENSP00000371798.3:p.Gly321= | |
| ENST00000382361.7:c.963G>A | ENSP00000371798.3:p.Gly321= | |
| ENST00000405801.2:c.129G>A | ENSP00000383982.2:p.Gly43= | |
| ENST00000444748.5:c.129G>A | ENSP00000404506.1:p.Gly43= | |
| ENST00000447103.5:c.129G>A | ENSP00000409967.1:p.Gly43= | |
| ENST00000473330.1:n.516G>A | ||
| NM_003088.3:c.963G>A | NP_003079.1:p.Gly321= | |
| NM_003088.4:c.963G>A MANE Select | NP_003079.1:p.Gly321= |