Linked Data
dbSNP Id:
rs920051455
gnomAD v2:
1-204131187-G-A
gnomAD v3:
1-204162059-G-A
gnomAD v4:
1-204162059-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204162059G>A , CM000663.2:g.204162059G>A | GRCh38 |
| NC_000001.10:g.204131187G>A , CM000663.1:g.204131187G>A | GRCh37 |
| NC_000001.9:g.202397810G>A | NCBI36 |
| NG_012122.1:g.9279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.203C>T MANE Select | ENSP00000272190.8:p.Thr68Ile | |
| ENST00000638118.1:c.89C>T | ENSP00000490307.1:p.Thr30Ile | |
| ENST00000272190.8:c.203C>T | ENSP00000272190.8:p.Thr68Ile | |
| NM_000537.3:c.203C>T | NP_000528.1:p.Thr68Ile | |
| NM_000537.4:c.203C>T MANE Select | NP_000528.1:p.Thr68Ile |