Linked Data
gnomAD v4:
11-640443-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.640443T>C , CM000673.2:g.640443T>C | GRCh38 |
| NC_000011.9:g.640443T>C , CM000673.1:g.640443T>C | GRCh37 |
| NC_000011.8:g.630443T>C | NCBI36 |
| NG_021241.1:g.8139T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000176183.6:c.1100T>C MANE Select | ENSP00000176183.5:p.Ile367Thr | |
| ENST00000176183.5:c.1100T>C | ENSP00000176183.5:p.Ile367Thr | |
| NM_000797.3:c.1100T>C | NP_000788.2:p.Ile367Thr | |
| NM_000797.4:c.1100T>C MANE Select | NP_000788.2:p.Ile367Thr |