Linked Data
gnomAD v4:
5-140114118-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114118T>C , CM000667.2:g.140114118T>C | GRCh38 |
| NC_000005.9:g.139493703T>C , CM000667.1:g.139493703T>C | GRCh37 |
| NC_000005.8:g.139473887T>C | NCBI36 |
| NG_041813.1:g.4996T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.-64T>C MANE Select | ENSP00000332706.3:n.-64T>C | |
| ENST00000505703.2:c.-64T>C | ENSP00000498560.1:n.-64T>C | |
| ENST00000651386.1:c.-64T>C | ENSP00000499133.1:n.-64T>C | |
| ENST00000502351.1:n.360T>C | ||
| ENST00000505703.1:n.402T>C | ||
| NM_005859.5:c.-64T>C MANE Select | NP_005850.1:n.-64T>C |