Linked Data
dbSNP Id:
rs780361088
ExAC:
4:4864600 G / A
gnomAD v2:
4-4864600-G-A
gnomAD v4:
4-4862873-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862873G>A , CM000666.2:g.4862873G>A | GRCh38 |
| NC_000004.11:g.4864600G>A , CM000666.1:g.4864600G>A | GRCh37 |
| NC_000004.10:g.4915501G>A | NCBI36 |
| NG_008121.1:g.8209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.642G>A MANE Select | ENSP00000372170.4:p.Thr214= | |
| ENST00000382723.4:c.642G>A | ENSP00000372170.4:p.Thr214= | |
| ENST00000468421.1:n.354G>A | ||
| NM_002448.3:c.642G>A MANE Select | NP_002439.2:p.Thr214= |