Linked Data
gnomAD v4:
5-1232399-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1232399G>T , CM000667.2:g.1232399G>T | GRCh38 |
| NC_000005.9:g.1232514G>T , CM000667.1:g.1232514G>T | GRCh37 |
| NC_000005.8:g.1285514G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324642.4:c.301+40G>T MANE Select | ENSP00000323549.3:n.301+40G>T | |
| ENST00000324642.3:c.301+40G>T | ENSP00000323549.3:n.301+40G>T | |
| ENST00000513607.2:n.370+40G>T | ||
| NM_182632.2:c.301+40G>T | NP_872438.2:n.301+40G>T | |
| NM_182632.3:c.301+40G>T MANE Select | NP_872438.2:n.301+40G>T |