Linked Data
ClinVar Variation Id:
324031
ClinVar RCV Id:
RCV000265169
dbSNP Id:
rs150591955
gnomAD v2:
17-48072494-G-T
gnomAD v3:
17-49995130-G-T
gnomAD v4:
17-49995130-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49995130G>T , CM000679.2:g.49995130G>T | GRCh38 |
| NC_000017.10:g.48072494G>T , CM000679.1:g.48072494G>T | GRCh37 |
| NC_000017.9:g.45427493G>T | NCBI36 |
| NG_023063.1:g.5095C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000434704.2:c.-132C>A MANE Select | ENSP00000389870.2:n.-132C>A | |
| NM_005220.2:c.-132C>A | NP_005211.1:n.-132C>A | |
| XM_011524458.1:c.-132C>A | XP_011522760.1:n.-132C>A | |
| NM_005220.3:c.-132C>A MANE Select | NP_005211.1:n.-132C>A |