Linked Data
gnomAD v4:
1-1232505-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232505T>C , CM000663.2:g.1232505T>C | GRCh38 |
| NC_000001.10:g.1167885T>C , CM000663.1:g.1167885T>C | GRCh37 |
| NC_000001.9:g.1157748T>C | NCBI36 |
| NG_030007.1:g.4563A>G | |
| NG_033265.1:g.5257T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.227T>C MANE Select | ENSP00000368496.2:p.Ile76Thr | |
| ENST00000379198.3:c.227T>C | ENSP00000368496.2:p.Ile76Thr | |
| NM_080605.3:c.227T>C | NP_542172.2:p.Ile76Thr | |
| NM_080605.4:c.227T>C MANE Select | NP_542172.2:p.Ile76Thr |