Linked Data
gnomAD v4:
5-140114132-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114132C>T , CM000667.2:g.140114132C>T | GRCh38 |
| NC_000005.9:g.139493717C>T , CM000667.1:g.139493717C>T | GRCh37 |
| NC_000005.8:g.139473901C>T | NCBI36 |
| NG_041813.1:g.5010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.-50C>T MANE Select | ENSP00000332706.3:n.-50C>T | |
| ENST00000505703.2:c.-50C>T | ENSP00000498560.1:n.-50C>T | |
| ENST00000651386.1:c.-50C>T | ENSP00000499133.1:n.-50C>T | |
| ENST00000331327.4:c.-50C>T | ENSP00000332706.3:n.-50C>T | |
| ENST00000502351.1:n.374C>T | ||
| ENST00000505703.1:n.416C>T | ||
| NM_005859.4:c.-50C>T | NP_005850.1:n.-50C>T | |
| NM_005859.5:c.-50C>T MANE Select | NP_005850.1:n.-50C>T |