Linked Data
gnomAD v4:
17-49995109-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49995109G>T , CM000679.2:g.49995109G>T | GRCh38 |
| NC_000017.10:g.48072473G>T , CM000679.1:g.48072473G>T | GRCh37 |
| NC_000017.9:g.45427472G>T | NCBI36 |
| NG_023063.1:g.5116C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.-111C>A MANE Select | ENSP00000389870.2:n.-111C>A | |
| NM_005220.2:c.-111C>A | NP_005211.1:n.-111C>A | |
| XM_011524458.1:c.-111C>A | XP_011522760.1:n.-111C>A | |
| NM_005220.3:c.-111C>A MANE Select | NP_005211.1:n.-111C>A |