Linked Data
gnomAD v4:
17-49995224-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49995224T>G , CM000679.2:g.49995224T>G | GRCh38 |
| NC_000017.10:g.48072588T>G , CM000679.1:g.48072588T>G | GRCh37 |
| NC_000017.9:g.45427587T>G | NCBI36 |
| NG_023063.1:g.5001A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.-226A>C MANE Select | ENSP00000389870.2:n.-226A>C | |
| NM_005220.2:c.-226A>C | NP_005211.1:n.-226A>C | |
| XM_011524458.1:c.-226A>C | XP_011522760.1:n.-226A>C | |
| NM_005220.3:c.-226A>C MANE Select | NP_005211.1:n.-226A>C |