Linked Data
gnomAD v4:
11-6319230-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319230G>A , CM000673.2:g.6319230G>A | GRCh38 |
| NC_000011.9:g.6340460G>A , CM000673.1:g.6340460G>A | GRCh37 |
| NC_000011.8:g.6297036G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.719C>T MANE Select | ENSP00000307292.3:p.Thr240Ile | |
| ENST00000303927.3:c.719C>T | ENSP00000307292.3:p.Thr240Ile | |
| ENST00000524852.1:n.505C>T | ||
| ENST00000530979.1:c.815C>T | ENSP00000432047.1:p.Thr272Ile | |
| ENST00000532354.1:n.741C>T | ||
| NM_145040.2:c.719C>T | NP_659477.2:p.Thr240Ile | |
| XR_930997.1:n.720+1010G>A | ||
| XR_242848.4:n.90G>A | ||
| NM_145040.3:c.719C>T MANE Select | NP_659477.2:p.Thr240Ile |