Linked Data
dbSNP Id:
rs574100052
ExAC:
1:204131160 A / G
gnomAD v2:
1-204131160-A-G
gnomAD v3:
1-204162032-A-G
gnomAD v4:
1-204162032-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204162032A>G , CM000663.2:g.204162032A>G | GRCh38 |
| NC_000001.10:g.204131160A>G , CM000663.1:g.204131160A>G | GRCh37 |
| NC_000001.9:g.202397783A>G | NCBI36 |
| NG_012122.1:g.9306T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.230T>C MANE Select | ENSP00000272190.8:p.Ile77Thr | |
| ENST00000638118.1:c.116T>C | ENSP00000490307.1:p.Ile39Thr | |
| ENST00000272190.8:c.230T>C | ENSP00000272190.8:p.Ile77Thr | |
| NM_000537.3:c.230T>C | NP_000528.1:p.Ile77Thr | |
| NM_000537.4:c.230T>C MANE Select | NP_000528.1:p.Ile77Thr |