Linked Data
gnomAD v4:
1-186680340-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186680340G>T , CM000663.2:g.186680340G>T | GRCh38 |
| NC_000001.10:g.186649472G>T , CM000663.1:g.186649472G>T | GRCh37 |
| NC_000001.9:g.184916095G>T | NCBI36 |
| NG_028206.2:g.5088C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.-50C>A MANE Select | ENSP00000356438.5:n.-50C>A | |
| ENST00000680451.1:c.-50C>A | ENSP00000506242.1:n.-50C>A | |
| ENST00000681605.1:c.-50C>A | ENSP00000504900.1:n.-50C>A | |
| ENST00000367468.9:c.-50C>A | ENSP00000356438.5:n.-50C>A | |
| ENST00000490885.6:n.84C>A | ||
| ENST00000559800.1:n.84C>A | ||
| NM_000963.3:c.-50C>A | NP_000954.1:n.-50C>A | |
| NM_000963.4:c.-50C>A MANE Select | NP_000954.1:n.-50C>A |