Linked Data
dbSNP Id:
rs1375271702
gnomAD v2:
5-45645624-G-A
gnomAD v3:
5-45645522-G-A
gnomAD v4:
5-45645522-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45645522G>A , CM000667.2:g.45645522G>A | GRCh38 |
| NC_000005.9:g.45645624G>A , CM000667.1:g.45645624G>A | GRCh37 |
| NC_000005.8:g.45681381G>A | NCBI36 |
| NG_042183.1:g.55597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.512C>T MANE Select | ENSP00000307342.4:p.Thr171Ile | |
| ENST00000673735.1:c.512C>T | ENSP00000501107.1:p.Thr171Ile | |
| ENST00000303230.5:c.512C>T | ENSP00000307342.4:p.Thr171Ile | |
| ENST00000634658.1:c.512C>T | ENSP00000489134.1:p.Thr171Ile | |
| NM_021072.3:c.512C>T | NP_066550.2:p.Thr171Ile | |
| NM_021072.4:c.512C>T MANE Select | NP_066550.2:p.Thr171Ile |