Linked Data
gnomAD v4:
7-152676043-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152676043C>T , CM000669.2:g.152676043C>T | GRCh38 |
| NC_000007.13:g.152373128C>T , CM000669.1:g.152373128C>T | GRCh37 |
| NC_000007.12:g.152004061C>T | NCBI36 |
| NG_027988.1:g.5123G>A | |
| NG_027988.2:g.5123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-50G>A | ENSP00000513758.1:n.-50G>A | |
| ENST00000698507.1:n.105G>A | ||
| ENST00000359321.2:c.37G>A MANE Select | ENSP00000352271.1:p.Glu13Lys | |
| ENST00000359321.1:c.37G>A | ENSP00000352271.1:p.Glu13Lys | |
| NM_005431.1:c.37G>A | NP_005422.1:p.Glu13Lys | |
| NM_005431.2:c.37G>A MANE Select | NP_005422.1:p.Glu13Lys |