Linked Data
dbSNP Id:
rs1305018391
gnomAD v2:
17-48072470-G-T
gnomAD v3:
17-49995106-G-T
gnomAD v4:
17-49995106-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49995106G>T , CM000679.2:g.49995106G>T | GRCh38 |
| NC_000017.10:g.48072470G>T , CM000679.1:g.48072470G>T | GRCh37 |
| NC_000017.9:g.45427469G>T | NCBI36 |
| NG_023063.1:g.5119C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.-108C>A MANE Select | ENSP00000389870.2:n.-108C>A | |
| NM_005220.2:c.-108C>A | NP_005211.1:n.-108C>A | |
| XM_011524458.1:c.-108C>A | XP_011522760.1:n.-108C>A | |
| NM_005220.3:c.-108C>A MANE Select | NP_005211.1:n.-108C>A |