Linked Data
dbSNP Id:
rs765976739
ExAC:
4:74308074 G / A
gnomAD v2:
4-74308074-G-A
gnomAD v4:
4-73442357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73442357G>A , CM000666.2:g.73442357G>A | GRCh38 |
| NC_000004.11:g.74308074G>A , CM000666.1:g.74308074G>A | GRCh37 |
| NC_000004.10:g.74526938G>A | NCBI36 |
| NG_023028.1:g.11142G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395792.7:c.544G>A MANE Select | ENSP00000379138.2:p.Ala182Thr | |
| ENST00000226359.2:c.544G>A | ENSP00000226359.2:p.Ala182Thr | |
| ENST00000395792.6:c.544G>A | ENSP00000379138.2:p.Ala182Thr | |
| NM_001134.2:c.544G>A | NP_001125.1:p.Ala182Thr | |
| XM_011531704.1:c.541G>A | XP_011530006.1:p.Ala181Thr | |
| NM_001354717.1:c.70G>A | NP_001341646.1:p.Ala24Thr | |
| NM_001134.3:c.544G>A MANE Select | NP_001125.1:p.Ala182Thr | |
| NM_001354717.2:c.70G>A | NP_001341646.2:p.Ala24Thr |