Linked Data
gnomAD v4:
5-14871608-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871608G>T , CM000667.2:g.14871608G>T | GRCh38 |
| NC_000005.9:g.14871717G>T , CM000667.1:g.14871717G>T | GRCh37 |
| NC_000005.8:g.14924717G>T | NCBI36 |
| NG_008273.1:g.5171C>A | |
| NG_008273.2:g.5178C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-161C>A MANE Select | ENSP00000284268.6:n.-161C>A | |
| ENST00000284268.6:c.-161C>A | ENSP00000284268.6:n.-161C>A | |
| ENST00000505140.1:c.-161C>A | ENSP00000426332.1:n.-161C>A | |
| NM_054027.4:c.-161C>A | NP_473368.1:n.-161C>A | |
| XM_011514067.1:c.-161C>A | XP_011512369.1:n.-161C>A | |
| NM_054027.5:c.-161C>A | NP_473368.1:n.-161C>A | |
| NM_054027.6:c.-161C>A MANE Select | NP_473368.1:n.-161C>A |